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Novel, human cell line-derived recombinant factor VIII (Human-cl rhFVIII, Nuwiq.

Haemophilia : the official journal of the World Federation of Hemophilia

Klukowska A, Szczepański T, Vdovin V, Knaub S, Jansen M, Liesner R.
PMID: 26370328
Haemophilia. 2016 Mar;22(2):232-239. doi: 10.1111/hae.12797. Epub 2015 Sep 14.

INTRODUCTION: NuwiqAIM/METHODS: This prospective, open-label, multinational phase III study assessed the efficacy and safety of Human-cl rhFVIII in 59 previously treated patients (PTPs) with severe haemophilia A aged 2-12 years (2-5 [N = 29]; 6-12 [N = 30]) during...

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Klukowska A, Szczepański T, Vdovin V, et al. Novel, human cell line-derived recombinant factor VIII (Human-cl rhFVIII, Nuwiq. Haemophilia. 2015;22(2):232-239doi: 10.1111/hae.12797.
Klukowska, A., Szczepański, T., Vdovin, V., Knaub, S., Jansen, M., & Liesner, R. (2016). Novel, human cell line-derived recombinant factor VIII (Human-cl rhFVIII, Nuwiq. Haemophilia : the official journal of the World Federation of Hemophilia, 22(2), 232-239. https://doi.org/10.1111/hae.12797
Klukowska, A, et al. "Novel, human cell line-derived recombinant factor VIII (Human-cl rhFVIII, Nuwiq." Haemophilia : the official journal of the World Federation of Hemophilia vol. 22,2 (2016): 232-239. doi: https://doi.org/10.1111/hae.12797
Klukowska A, Szczepański T, Vdovin V, Knaub S, Jansen M, Liesner R. Novel, human cell line-derived recombinant factor VIII (Human-cl rhFVIII, Nuwiq. Haemophilia. 2016 Mar;22(2):232-239. doi: 10.1111/hae.12797. Epub 2015 Sep 14. PMID: 26370328.
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Erratum: Transition of Patients with Esophageal Atresia to Adult Care: Results of a Transition-Specific Education Program.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie

Dingemann J, Szczepanski R, Ernst G, Thyen U, Ure B, Goll M, Menrath I.
PMID: 27655269
Eur J Pediatr Surg. 2017 Feb;27(1):e1-e2. doi: 10.1055/s-0036-1592311. Epub 2016 Sep 21.

No abstract available.

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Dingemann J, Szczepanski R, Ernst G, et al. Erratum: Transition of Patients with Esophageal Atresia to Adult Care: Results of a Transition-Specific Education Program. Eur J Pediatr Surg. 2016;27(1):e1-e2doi: 10.1055/s-0036-1592311.
Dingemann, J., Szczepanski, R., Ernst, G., Thyen, U., Ure, B., Goll, M., & Menrath, I. (2017). Erratum: Transition of Patients with Esophageal Atresia to Adult Care: Results of a Transition-Specific Education Program. European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie, 27(1), e1-e2. https://doi.org/10.1055/s-0036-1592311
Dingemann, Jens, et al. "Erratum: Transition of Patients with Esophageal Atresia to Adult Care: Results of a Transition-Specific Education Program." European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie vol. 27,1 (2017): e1-e2. doi: https://doi.org/10.1055/s-0036-1592311
Dingemann J, Szczepanski R, Ernst G, Thyen U, Ure B, Goll M, Menrath I. Erratum: Transition of Patients with Esophageal Atresia to Adult Care: Results of a Transition-Specific Education Program. Eur J Pediatr Surg. 2017 Feb;27(1):e1-e2. doi: 10.1055/s-0036-1592311. Epub 2016 Sep 21. PMID: 27655269.
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CD26 expression and adenosine deaminase activity in regulatory T cells (Treg) and CD4(+) T effector cells in patients with head and neck squamous cell carcinoma.

Oncoimmunology

Mandapathil M, Szczepanski M, Harasymczuk M, Ren J, Cheng D, Jackson EK, Gorelik E, Johnson J, Lang S, Whiteside TL.
PMID: 22934258
Oncoimmunology. 2012 Aug 01;1(5):659-669. doi: 10.4161/onci.20387.

Adenosine deaminase (ADA) is responsible for the deamination of immunosuppressive adenosine to inosine. In human T lymphocytes, ADA is associated with dipeptidyl peptidase IV (CD26). ADA expression and activity were evaluated in regulatory T cells (Treg) and CD4(+) T...

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Mandapathil M, Szczepanski M, Harasymczuk M, et al. CD26 expression and adenosine deaminase activity in regulatory T cells (Treg) and CD4(+) T effector cells in patients with head and neck squamous cell carcinoma. Oncoimmunology. 2012;1(5):659-669doi: 10.4161/onci.20387.
Mandapathil, M., Szczepanski, M., Harasymczuk, M., Ren, J., Cheng, D., Jackson, E. K., Gorelik, E., Johnson, J., Lang, S., & Whiteside, T. L. (2012). CD26 expression and adenosine deaminase activity in regulatory T cells (Treg) and CD4(+) T effector cells in patients with head and neck squamous cell carcinoma. Oncoimmunology, 1(5), 659-669. https://doi.org/10.4161/onci.20387
Mandapathil, Magis, et al. "CD26 expression and adenosine deaminase activity in regulatory T cells (Treg) and CD4(+) T effector cells in patients with head and neck squamous cell carcinoma." Oncoimmunology vol. 1,5 (2012): 659-669. doi: https://doi.org/10.4161/onci.20387
Mandapathil M, Szczepanski M, Harasymczuk M, Ren J, Cheng D, Jackson EK, Gorelik E, Johnson J, Lang S, Whiteside TL. CD26 expression and adenosine deaminase activity in regulatory T cells (Treg) and CD4(+) T effector cells in patients with head and neck squamous cell carcinoma. Oncoimmunology. 2012 Aug 01;1(5):659-669. doi: 10.4161/onci.20387. PMID: 22934258; PMCID: PMC3429570.
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Tunable slow light in graphene-based hyperbolic metamaterial waveguide operating in SCLU telecom bands.

Optics express

Tyszka-Zawadzka A, Janaszek B, Szczepański P.
PMID: 28380851
Opt Express. 2017 Apr 03;25(7):7263-7272. doi: 10.1364/OE.25.007263.

The tunability of slow light in graphene-based hyperbolic metamaterial waveguide operating in SCLU telecom bands is investigated. For the first time it has been shown that proper design of a GHMM structure forming waveguide layer and the geometry of...

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Tyszka-Zawadzka A, Janaszek B, Szczepański P. Tunable slow light in graphene-based hyperbolic metamaterial waveguide operating in SCLU telecom bands. Opt Express. 2017;25(7):7263-7272doi: 10.1364/OE.25.007263.
Tyszka-Zawadzka, A., Janaszek, B., & Szczepański, P. (2017). Tunable slow light in graphene-based hyperbolic metamaterial waveguide operating in SCLU telecom bands. Optics express, 25(7), 7263-7272. https://doi.org/10.1364/OE.25.007263
Tyszka-Zawadzka, Anna, et al. "Tunable slow light in graphene-based hyperbolic metamaterial waveguide operating in SCLU telecom bands." Optics express vol. 25,7 (2017): 7263-7272. doi: https://doi.org/10.1364/OE.25.007263
Tyszka-Zawadzka A, Janaszek B, Szczepański P. Tunable slow light in graphene-based hyperbolic metamaterial waveguide operating in SCLU telecom bands. Opt Express. 2017 Apr 03;25(7):7263-7272. doi: 10.1364/OE.25.007263. PMID: 28380851.
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Lack of common TCRA and TCRB clonotypes in CD8(+)/TCRαβ(+) T-cell large granular lymphocyte leukemia: a review on the role of antigenic selection in the immunopathogenesis of CD8(+) T-LGL.

Blood cancer journal

Sandberg Y, Kallemeijn MJ, Dik WA, Tielemans D, Wolvers-Tettero IL, van Gastel-Mol EJ, Szczepanski T, Pol Y, Darzentas N, van Dongen JJ, Langerak AW.
PMID: 24413066
Blood Cancer J. 2014 Jan 10;4:e172. doi: 10.1038/bcj.2013.70.

Clonal CD8(+)/T-cell receptor (TCR)αβ(+) T-cell large granular lymphocyte (T-LGL) proliferations constitute the most common subtype of T-LGL leukemia. Although the etiology of T-LGL leukemia is largely unknown, it has been hypothesized that chronic antigenic stimulation contributes to the pathogenesis...

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Sandberg Y, Kallemeijn MJ, Dik WA, et al. Lack of common TCRA and TCRB clonotypes in CD8(+)/TCRαβ(+) T-cell large granular lymphocyte leukemia: a review on the role of antigenic selection in the immunopathogenesis of CD8(+) T-LGL. Blood Cancer J. 2014;4:e172doi: 10.1038/bcj.2013.70.
Sandberg, Y., Kallemeijn, M. J., Dik, W. A., Tielemans, D., Wolvers-Tettero, I. L., van Gastel-Mol, E. J., Szczepanski, T., Pol, Y., Darzentas, N., van Dongen, J. J., & Langerak, A. W. (2014). Lack of common TCRA and TCRB clonotypes in CD8(+)/TCRαβ(+) T-cell large granular lymphocyte leukemia: a review on the role of antigenic selection in the immunopathogenesis of CD8(+) T-LGL. Blood cancer journal, 4e172. https://doi.org/10.1038/bcj.2013.70
Sandberg, Y, et al. "Lack of common TCRA and TCRB clonotypes in CD8(+)/TCRαβ(+) T-cell large granular lymphocyte leukemia: a review on the role of antigenic selection in the immunopathogenesis of CD8(+) T-LGL." Blood cancer journal vol. 4 (2014): e172. doi: https://doi.org/10.1038/bcj.2013.70
Sandberg Y, Kallemeijn MJ, Dik WA, Tielemans D, Wolvers-Tettero IL, van Gastel-Mol EJ, Szczepanski T, Pol Y, Darzentas N, van Dongen JJ, Langerak AW. Lack of common TCRA and TCRB clonotypes in CD8(+)/TCRαβ(+) T-cell large granular lymphocyte leukemia: a review on the role of antigenic selection in the immunopathogenesis of CD8(+) T-LGL. Blood Cancer J. 2014 Jan 10;4:e172. doi: 10.1038/bcj.2013.70. PMID: 24413066; PMCID: PMC3913939.
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Relation of mood ratings and neurohormonal responses during daily life in employed women.

International journal of behavioral medicine

Szczepanski R, Napolitano M, Feaganes JR, Barefoot JC, Luecken L, Swoap RS, Kuhn C, Suarez E, Siegler IC, Williams RB, Blumenthal JA.
PMID: 16250739
Int J Behav Med. 1997;4(1):1-16. doi: 10.1207/s15327558ijbm0401_1.

Diurnal variations in urinary norepinephrine, epinephrine, cortisol, and self-reported mood states were examined in 101 employed women. Urine was collected on 2 consecutive workdays at 3 time periods: (1) overnight, (2) daytime, and (3) evening. Self-reports of 14 mood...

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Szczepanski R, Napolitano M, Feaganes JR, et al. Relation of mood ratings and neurohormonal responses during daily life in employed women. Int J Behav Med. 1997;4(1):1-16doi: 10.1207/s15327558ijbm0401_1.
Szczepanski, R., Napolitano, M., Feaganes, J. R., Barefoot, J. C., Luecken, L., Swoap, R. S., Kuhn, C., Suarez, E., Siegler, I. C., Williams, R. B., & Blumenthal, J. A. (1997). Relation of mood ratings and neurohormonal responses during daily life in employed women. International journal of behavioral medicine, 4(1), 1-16. https://doi.org/10.1207/s15327558ijbm0401_1
Szczepanski, R, et al. "Relation of mood ratings and neurohormonal responses during daily life in employed women." International journal of behavioral medicine vol. 4,1 (1997): 1-16. doi: https://doi.org/10.1207/s15327558ijbm0401_1
Szczepanski R, Napolitano M, Feaganes JR, Barefoot JC, Luecken L, Swoap RS, Kuhn C, Suarez E, Siegler IC, Williams RB, Blumenthal JA. Relation of mood ratings and neurohormonal responses during daily life in employed women. Int J Behav Med. 1997;4(1):1-16. doi: 10.1207/s15327558ijbm0401_1. PMID: 16250739.
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Invasive fungal infection of the central nervous system in a patient with acute myeloid leukaemia.

Polish journal of radiology

Janik-Moszant A, Matyl A, Rurańska I, Machowska-Majchrzak A, Kluczewska E, Szczepański T.
PMID: 22802867
Pol J Radiol. 2012 Jan;77(1):54-7. doi: 10.12659/pjr.882582.

BACKGROUND: Although the new intensive chemotherapeutic programs introduced recently into hematooncological therapies have led to a higher number of recoveries, persistent neutropenia favours the spread of severe infections, frequently fungal infections. Systemic fungal infections in patients treated for proliferative...

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Janik-Moszant A, Matyl A, Rurańska I, et al. Invasive fungal infection of the central nervous system in a patient with acute myeloid leukaemia. Pol J Radiol. 2012;77(1):54-7doi: 10.12659/pjr.882582.
Janik-Moszant, A., Matyl, A., Rurańska, I., Machowska-Majchrzak, A., Kluczewska, E., & Szczepański, T. (2012). Invasive fungal infection of the central nervous system in a patient with acute myeloid leukaemia. Polish journal of radiology, 77(1), 54-7. https://doi.org/10.12659/pjr.882582
Janik-Moszant, Anna, et al. "Invasive fungal infection of the central nervous system in a patient with acute myeloid leukaemia." Polish journal of radiology vol. 77,1 (2012): 54-7. doi: https://doi.org/10.12659/pjr.882582
Janik-Moszant A, Matyl A, Rurańska I, Machowska-Majchrzak A, Kluczewska E, Szczepański T. Invasive fungal infection of the central nervous system in a patient with acute myeloid leukaemia. Pol J Radiol. 2012 Jan;77(1):54-7. doi: 10.12659/pjr.882582. PMID: 22802867; PMCID: PMC3389958.
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The Usefulness of Quantitative EEG and Advanced MR Techniques in the Monitoring and Long-Term Prognosis of Lance-Adams Syndrome.

Frontiers in neurology

Szczepańska A, Dziadkowiak E, Bladowska J, Kipiński L, Budrewicz S, Koszewicz M.
PMID: 30915026
Front Neurol. 2019 Mar 12;10:214. doi: 10.3389/fneur.2019.00214. eCollection 2019.

No abstract available.

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Szczepańska A, Dziadkowiak E, Bladowska J, et al. The Usefulness of Quantitative EEG and Advanced MR Techniques in the Monitoring and Long-Term Prognosis of Lance-Adams Syndrome. Front Neurol. 2019;10:214doi: 10.3389/fneur.2019.00214.
Szczepańska, A., Dziadkowiak, E., Bladowska, J., Kipiński, L., Budrewicz, S., & Koszewicz, M. (2019). The Usefulness of Quantitative EEG and Advanced MR Techniques in the Monitoring and Long-Term Prognosis of Lance-Adams Syndrome. Frontiers in neurology, 10214. https://doi.org/10.3389/fneur.2019.00214
Szczepańska, Aleksandra, et al. "The Usefulness of Quantitative EEG and Advanced MR Techniques in the Monitoring and Long-Term Prognosis of Lance-Adams Syndrome." Frontiers in neurology vol. 10 (2019): 214. doi: https://doi.org/10.3389/fneur.2019.00214
Szczepańska A, Dziadkowiak E, Bladowska J, Kipiński L, Budrewicz S, Koszewicz M. The Usefulness of Quantitative EEG and Advanced MR Techniques in the Monitoring and Long-Term Prognosis of Lance-Adams Syndrome. Front Neurol. 2019 Mar 12;10:214. doi: 10.3389/fneur.2019.00214. eCollection 2019. PMID: 30915026; PMCID: PMC6422875.
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Stabilities of bisphenol A diglycidyl ether, bisphenol F diglycidyl ether, and their derivatives under controlled conditions analyzed using liquid chromatography coupled with tandem mass spectrometry.

Analytical and bioanalytical chemistry

Szczepańska N, Kubica P, Kudłak B, Namieśnik J, Wasik A.
PMID: 31321469
Anal Bioanal Chem. 2019 Sep;411(24):6387-6398. doi: 10.1007/s00216-019-02016-5. Epub 2019 Jul 19.

Bisphenol A diglycidyl ether (BADGE), bisphenol F diglycydyl ether (BFDGE), and their related compounds are widely used as precursors in production of epoxy resins. The high reactivity of these compounds makes the development of analytical methodologies that ensure appropriate...

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Szczepańska N, Kubica P, Kudłak B, et al. Stabilities of bisphenol A diglycidyl ether, bisphenol F diglycidyl ether, and their derivatives under controlled conditions analyzed using liquid chromatography coupled with tandem mass spectrometry. Anal Bioanal Chem. 2019;411(24):6387-6398doi: 10.1007/s00216-019-02016-5.
Szczepańska, N., Kubica, P., Kudłak, B., Namieśnik, J., & Wasik, A. (2019). Stabilities of bisphenol A diglycidyl ether, bisphenol F diglycidyl ether, and their derivatives under controlled conditions analyzed using liquid chromatography coupled with tandem mass spectrometry. Analytical and bioanalytical chemistry, 411(24), 6387-6398. https://doi.org/10.1007/s00216-019-02016-5
Szczepańska, Natalia, et al. "Stabilities of bisphenol A diglycidyl ether, bisphenol F diglycidyl ether, and their derivatives under controlled conditions analyzed using liquid chromatography coupled with tandem mass spectrometry." Analytical and bioanalytical chemistry vol. 411,24 (2019): 6387-6398. doi: https://doi.org/10.1007/s00216-019-02016-5
Szczepańska N, Kubica P, Kudłak B, Namieśnik J, Wasik A. Stabilities of bisphenol A diglycidyl ether, bisphenol F diglycidyl ether, and their derivatives under controlled conditions analyzed using liquid chromatography coupled with tandem mass spectrometry. Anal Bioanal Chem. 2019 Sep;411(24):6387-6398. doi: 10.1007/s00216-019-02016-5. Epub 2019 Jul 19. PMID: 31321469; PMCID: PMC6718377.
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A "mysterious ghost kidney stone" in an 8-year-old boy with a solitary right kidney, obstructive megaureter and ureterostomy: Questions.

Pediatric nephrology (Berlin, Germany)

Badeński A, Bjanid O, Badeńska M, Chmiela B, Adamczyk P, Kudela G, Moskal G, Szczepańska M.
PMID: 32696262
Pediatr Nephrol. 2021 Apr;36(4):863-864. doi: 10.1007/s00467-020-04707-z. Epub 2020 Jul 21.

No abstract available.

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Badeński A, Bjanid O, Badeńska M, et al. A "mysterious ghost kidney stone" in an 8-year-old boy with a solitary right kidney, obstructive megaureter and ureterostomy: Questions. Pediatr Nephrol. 2020;36(4):863-864doi: 10.1007/s00467-020-04707-z.
Badeński, A., Bjanid, O., Badeńska, M., Chmiela, B., Adamczyk, P., Kudela, G., Moskal, G., & Szczepańska, M. (2021). A "mysterious ghost kidney stone" in an 8-year-old boy with a solitary right kidney, obstructive megaureter and ureterostomy: Questions. Pediatric nephrology (Berlin, Germany), 36(4), 863-864. https://doi.org/10.1007/s00467-020-04707-z
Badeński, Andrzej, et al. "A "mysterious ghost kidney stone" in an 8-year-old boy with a solitary right kidney, obstructive megaureter and ureterostomy: Questions." Pediatric nephrology (Berlin, Germany) vol. 36,4 (2021): 863-864. doi: https://doi.org/10.1007/s00467-020-04707-z
Badeński A, Bjanid O, Badeńska M, Chmiela B, Adamczyk P, Kudela G, Moskal G, Szczepańska M. A "mysterious ghost kidney stone" in an 8-year-old boy with a solitary right kidney, obstructive megaureter and ureterostomy: Questions. Pediatr Nephrol. 2021 Apr;36(4):863-864. doi: 10.1007/s00467-020-04707-z. Epub 2020 Jul 21. PMID: 32696262; PMCID: PMC7910233.
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Clinical Characteristics of Hospitalized COVID-19 Patients Who Received at Least One Dose of COVID-19 Vaccine.

Vaccines

Rzymski P, Pazgan-Simon M, Simon K, Łapiński T, Zarębska-Michaluk D, Szczepańska B, Chojnicki M, Mozer-Lisewska I, Flisiak R.
PMID: 34358197
Vaccines (Basel). 2021 Jul 13;9(7). doi: 10.3390/vaccines9070781.

The clinical trials of the COVID-19 vaccines that are authorized in the European Union have revealed high efficacy in preventing symptomatic infections. However, during vaccination campaigns, some vaccine recipients, including those partially and fully vaccinated, will experience severe COVID-19,...

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Rzymski P, Pazgan-Simon M, Simon K, et al. Clinical Characteristics of Hospitalized COVID-19 Patients Who Received at Least One Dose of COVID-19 Vaccine. Vaccines (Basel). 2021;9(7)doi: 10.3390/vaccines9070781.
Rzymski, P., Pazgan-Simon, M., Simon, K., Łapiński, T., Zarębska-Michaluk, D., Szczepańska, B., Chojnicki, M., Mozer-Lisewska, I., & Flisiak, R. (2021). Clinical Characteristics of Hospitalized COVID-19 Patients Who Received at Least One Dose of COVID-19 Vaccine. Vaccines, 9(7), . https://doi.org/10.3390/vaccines9070781
Rzymski, Piotr, et al. "Clinical Characteristics of Hospitalized COVID-19 Patients Who Received at Least One Dose of COVID-19 Vaccine." Vaccines vol. 9,7 (2021). doi: https://doi.org/10.3390/vaccines9070781
Rzymski P, Pazgan-Simon M, Simon K, Łapiński T, Zarębska-Michaluk D, Szczepańska B, Chojnicki M, Mozer-Lisewska I, Flisiak R. Clinical Characteristics of Hospitalized COVID-19 Patients Who Received at Least One Dose of COVID-19 Vaccine. Vaccines (Basel). 2021 Jul 13;9(7). doi: 10.3390/vaccines9070781. PMID: 34358197; PMCID: PMC8310296.
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The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).

Human mutation

Franken GAC, Müller D, Mignot C, Keren B, Lévy J, Tabet AC, Germanaud D, Tejada MI, Kroes HY, Nievelstein RAJ, Brimble E, Ruzhnikov M, Claverie-Martin F, Szczepańska M, Ćuk M, Latta F, Konrad M, Martínez-Cruz LA, Bindels RJM, Hoenderop JGJ, Schlingmann KP, de Baaij JHF.
PMID: 33600043
Hum Mutat. 2021 Apr;42(4):473-486. doi: 10.1002/humu.24182. Epub 2021 Mar 01.

Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited number of cases, extensive phenotype analyses of these patients have not been performed, hindering early...

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Franken GAC, Müller D, Mignot C, et al. The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2). Hum Mutat. 2021;42(4):473-486doi: 10.1002/humu.24182.
Franken, G. A. C., Müller, D., Mignot, C., Keren, B., Lévy, J., Tabet, A. C., Germanaud, D., Tejada, M. I., Kroes, H. Y., Nievelstein, R. A. J., Brimble, E., Ruzhnikov, M., Claverie-Martin, F., Szczepańska, M., Ćuk, M., Latta, F., Konrad, M., Martínez-Cruz, L. A., Bindels, R. J. M., Hoenderop, J. G. J., Schlingmann, K. P., & de Baaij, J. H. F. (2021). The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2). Human mutation, 42(4), 473-486. https://doi.org/10.1002/humu.24182
Franken, Gijs A C, et al. "The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)." Human mutation vol. 42,4 (2021): 473-486. doi: https://doi.org/10.1002/humu.24182
Franken GAC, Müller D, Mignot C, Keren B, Lévy J, Tabet AC, Germanaud D, Tejada MI, Kroes HY, Nievelstein RAJ, Brimble E, Ruzhnikov M, Claverie-Martin F, Szczepańska M, Ćuk M, Latta F, Konrad M, Martínez-Cruz LA, Bindels RJM, Hoenderop JGJ, Schlingmann KP, de Baaij JHF. The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2). Hum Mutat. 2021 Apr;42(4):473-486. doi: 10.1002/humu.24182. Epub 2021 Mar 01. PMID: 33600043; PMCID: PMC8248058.
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