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Bridging bronchus, type six, as a new rare case of a bronchial anomaly.

JA clinical reports

El-Molla A, Daabiss M, Al-Otaibi R, Al-Qudaihy H, Bawazir S.
PMID: 29492439
JA Clin Rep. 2016;2(1):44. doi: 10.1186/s40981-016-0070-5. Epub 2016 Dec 07.

In 1976, Gonzales-Crussi et al. (Am. J. Dis. Child. 130:1015-18, 1976) introduced the first case of bridging bronchus as a rare bronchial branching anomaly; since then, only 14 worldwide cases was described. We suggest our case might be number...

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El-Molla A, Daabiss M, Al-Otaibi R, et al. Bridging bronchus, type six, as a new rare case of a bronchial anomaly. JA Clin Rep. 2016;2(1):44doi: 10.1186/s40981-016-0070-5.
El-Molla, A., Daabiss, M., Al-Otaibi, R., Al-Qudaihy, H., & Bawazir, S. (2016). Bridging bronchus, type six, as a new rare case of a bronchial anomaly. JA clinical reports, 2(1), 44. https://doi.org/10.1186/s40981-016-0070-5
El-Molla, Ashraf, et al. "Bridging bronchus, type six, as a new rare case of a bronchial anomaly." JA clinical reports vol. 2,1 (2016): 44. doi: https://doi.org/10.1186/s40981-016-0070-5
El-Molla A, Daabiss M, Al-Otaibi R, Al-Qudaihy H, Bawazir S. Bridging bronchus, type six, as a new rare case of a bronchial anomaly. JA Clin Rep. 2016;2(1):44. doi: 10.1186/s40981-016-0070-5. Epub 2016 Dec 07. PMID: 29492439; PMCID: PMC5813723.
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Graham-Little Piccardi Lassueur syndrome and review of the literature.

Clinical case reports

Alkhayal FA, Alsudairy F, Al Mubarak L, Almohanna HM.
PMID: 34504697
Clin Case Rep. 2021 Sep 05;9(9):e04761. doi: 10.1002/ccr3.4761. eCollection 2021 Sep.

Graham-Little Piccardi Lassueur Syndrome (GLPLS) is a rare variant of lichen planopilaris (LPP) which characterized by triad of fibrosing alopecia of the scalp, non-fibrosing alopecia of the axilla and groin, and a follicular spinous papule over the body. LPP...

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Alkhayal FA, Alsudairy F, Al Mubarak L, et al. Graham-Little Piccardi Lassueur syndrome and review of the literature. Clin Case Rep. 2021;9(9):e04761doi: 10.1002/ccr3.4761.
Alkhayal, F. A., Alsudairy, F., Al Mubarak, L., & Almohanna, H. M. (2021). Graham-Little Piccardi Lassueur syndrome and review of the literature. Clinical case reports, 9(9), e04761. https://doi.org/10.1002/ccr3.4761
Alkhayal, Fares A, et al. "Graham-Little Piccardi Lassueur syndrome and review of the literature." Clinical case reports vol. 9,9 (2021): e04761. doi: https://doi.org/10.1002/ccr3.4761
Alkhayal FA, Alsudairy F, Al Mubarak L, Almohanna HM. Graham-Little Piccardi Lassueur syndrome and review of the literature. Clin Case Rep. 2021 Sep 05;9(9):e04761. doi: 10.1002/ccr3.4761. eCollection 2021 Sep. PMID: 34504697; PMCID: PMC8418680.
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Menopausal symptoms and quality of life among Saudi women visiting primary care clinics in Riyadh, Saudi Arabia.

International journal of women's health

AlDughaither A, AlMutairy H, AlAteeq M.
PMID: 26170720
Int J Womens Health. 2015 Jun 29;7:645-53. doi: 10.2147/IJWH.S84709. eCollection 2015.

OBJECTIVES: Menopause is associated with somatic, vasomotor, psychological, and sexual complaints that may affect quality of life. We determined the prevalence and severity of menopausal symptoms and their impact on the quality of life among Saudi women visiting primary...

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AlDughaither A, AlMutairy H, AlAteeq M. Menopausal symptoms and quality of life among Saudi women visiting primary care clinics in Riyadh, Saudi Arabia. Int J Womens Health. 2015;7:645-53doi: 10.2147/IJWH.S84709.
AlDughaither, A., AlMutairy, H., & AlAteeq, M. (2015). Menopausal symptoms and quality of life among Saudi women visiting primary care clinics in Riyadh, Saudi Arabia. International journal of women's health, 7645-53. https://doi.org/10.2147/IJWH.S84709
AlDughaither, Aida, et al. "Menopausal symptoms and quality of life among Saudi women visiting primary care clinics in Riyadh, Saudi Arabia." International journal of women's health vol. 7 (2015): 645-53. doi: https://doi.org/10.2147/IJWH.S84709
AlDughaither A, AlMutairy H, AlAteeq M. Menopausal symptoms and quality of life among Saudi women visiting primary care clinics in Riyadh, Saudi Arabia. Int J Womens Health. 2015 Jun 29;7:645-53. doi: 10.2147/IJWH.S84709. eCollection 2015. PMID: 26170720; PMCID: PMC4493969.
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Exome Sequencing Reveals Novel .

Genetic testing and molecular biomarkers

Salih MA, Hamad MH, Savarese M, Alorainy IA, Al-Jarallah AS, Alkhalidi H, AlQudairy H, Albader A, Alotaibi AJ, Alsagob M, Al-Bakheet A, Colak D, Udd B, Kaya N.
PMID: 34918981
Genet Test Mol Biomarkers. 2021 Dec;25(12):757-764. doi: 10.1089/gtmb.2021.0085.

No abstract available.

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Salih MA, Hamad MH, Savarese M, et al. Exome Sequencing Reveals Novel . Genet Test Mol Biomarkers. 2021;25(12):757-764doi: 10.1089/gtmb.2021.0085.
Salih, M. A., Hamad, M. H., Savarese, M., Alorainy, I. A., Al-Jarallah, A. S., Alkhalidi, H., AlQudairy, H., Albader, A., Alotaibi, A. J., Alsagob, M., Al-Bakheet, A., Colak, D., Udd, B., & Kaya, N. (2021). Exome Sequencing Reveals Novel . Genetic testing and molecular biomarkers, 25(12), 757-764. https://doi.org/10.1089/gtmb.2021.0085
Salih, Mustafa A, et al. "Exome Sequencing Reveals Novel ." Genetic testing and molecular biomarkers vol. 25,12 (2021): 757-764. doi: https://doi.org/10.1089/gtmb.2021.0085
Salih MA, Hamad MH, Savarese M, Alorainy IA, Al-Jarallah AS, Alkhalidi H, AlQudairy H, Albader A, Alotaibi AJ, Alsagob M, Al-Bakheet A, Colak D, Udd B, Kaya N. Exome Sequencing Reveals Novel . Genet Test Mol Biomarkers. 2021 Dec;25(12):757-764. doi: 10.1089/gtmb.2021.0085. PMID: 34918981.
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HLA-matched HSCT using targeted busulfan-based conditioning in children with primary hemophagocytic lymphohistiocytosis.

Bone marrow transplantation

Essa MF, Abujoub R, Elbashir E, Alsudairy R, Alomari A, Alsultan A.
PMID: 34593985
Bone Marrow Transplant. 2021 Dec;56(12):3097-3099. doi: 10.1038/s41409-021-01468-7. Epub 2021 Sep 30.

No abstract available.

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Essa MF, Abujoub R, Elbashir E, et al. HLA-matched HSCT using targeted busulfan-based conditioning in children with primary hemophagocytic lymphohistiocytosis. Bone Marrow Transplant. 2021;56(12):3097-3099doi: 10.1038/s41409-021-01468-7.
Essa, M. F., Abujoub, R., Elbashir, E., Alsudairy, R., Alomari, A., & Alsultan, A. (2021). HLA-matched HSCT using targeted busulfan-based conditioning in children with primary hemophagocytic lymphohistiocytosis. Bone marrow transplantation, 56(12), 3097-3099. https://doi.org/10.1038/s41409-021-01468-7
Essa, Mohammed F, et al. "HLA-matched HSCT using targeted busulfan-based conditioning in children with primary hemophagocytic lymphohistiocytosis." Bone marrow transplantation vol. 56,12 (2021): 3097-3099. doi: https://doi.org/10.1038/s41409-021-01468-7
Essa MF, Abujoub R, Elbashir E, Alsudairy R, Alomari A, Alsultan A. HLA-matched HSCT using targeted busulfan-based conditioning in children with primary hemophagocytic lymphohistiocytosis. Bone Marrow Transplant. 2021 Dec;56(12):3097-3099. doi: 10.1038/s41409-021-01468-7. Epub 2021 Sep 30. PMID: 34593985.
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Phenotypic Variability of .

Genes

AlMuhaizea M, Dabbagh O, AlQudairy H, AlHargan A, Alotaibi W, Sami R, AlOtaibi R, Ali MM, AlHindi H, Colak D, Kaya N.
PMID: 34828389
Genes (Basel). 2021 Nov 10;12(11). doi: 10.3390/genes12111783.

Congenital myopathies are rare neuromuscular hereditary disorders that manifest at birth or during infancy and usually appear with muscle weakness and hypotonia. One of such disorders, early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD, OMIM: 614399, MIM: 612453), is...

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AlMuhaizea M, Dabbagh O, AlQudairy H, et al. Phenotypic Variability of . Genes (Basel). 2021;12(11)doi: 10.3390/genes12111783.
AlMuhaizea, M., Dabbagh, O., AlQudairy, H., AlHargan, A., Alotaibi, W., Sami, R., AlOtaibi, R., Ali, M. M., AlHindi, H., Colak, D., & Kaya, N. (2021). Phenotypic Variability of . Genes, 12(11), . https://doi.org/10.3390/genes12111783
AlMuhaizea, Mohammad, et al. "Phenotypic Variability of ." Genes vol. 12,11 (2021). doi: https://doi.org/10.3390/genes12111783
AlMuhaizea M, Dabbagh O, AlQudairy H, AlHargan A, Alotaibi W, Sami R, AlOtaibi R, Ali MM, AlHindi H, Colak D, Kaya N. Phenotypic Variability of . Genes (Basel). 2021 Nov 10;12(11). doi: 10.3390/genes12111783. PMID: 34828389; PMCID: PMC8620084.
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Patient satisfaction with services at the Family Medicine Employee Clinic in a tertiary hospital in Riyadh.

Journal of family medicine and primary care

Allafi AH, Alqhatani JS, Alruwayshid MS, Alshuniefi AS, Alarik EF, Alreshidi F, Almughais ES, AlQudairy RA.
PMID: 34123924
J Family Med Prim Care. 2021 Apr;10(4):1754-1758. doi: 10.4103/jfmpc.jfmpc_1745_20. Epub 2021 Apr 29.

BACKGROUND: Patient satisfaction reflects the healthcare quality of the facility. Therefore, it is important to determine satisfaction level of the patient satisfaction in order to improve services'quality provided to patients.AIM: to assess the satisfaction level of patients at the...

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Allafi AH, Alqhatani JS, Alruwayshid MS, et al. Patient satisfaction with services at the Family Medicine Employee Clinic in a tertiary hospital in Riyadh. J Family Med Prim Care. 2021;10(4):1754-1758doi: 10.4103/jfmpc.jfmpc_1745_20.
Allafi, A. H., Alqhatani, J. S., Alruwayshid, M. S., Alshuniefi, A. S., Alarik, E. F., Alreshidi, F., Almughais, E. S., & AlQudairy, R. A. (2021). Patient satisfaction with services at the Family Medicine Employee Clinic in a tertiary hospital in Riyadh. Journal of family medicine and primary care, 10(4), 1754-1758. https://doi.org/10.4103/jfmpc.jfmpc_1745_20
Allafi, Abrar H, et al. "Patient satisfaction with services at the Family Medicine Employee Clinic in a tertiary hospital in Riyadh." Journal of family medicine and primary care vol. 10,4 (2021): 1754-1758. doi: https://doi.org/10.4103/jfmpc.jfmpc_1745_20
Allafi AH, Alqhatani JS, Alruwayshid MS, Alshuniefi AS, Alarik EF, Alreshidi F, Almughais ES, AlQudairy RA. Patient satisfaction with services at the Family Medicine Employee Clinic in a tertiary hospital in Riyadh. J Family Med Prim Care. 2021 Apr;10(4):1754-1758. doi: 10.4103/jfmpc.jfmpc_1745_20. Epub 2021 Apr 29. PMID: 34123924; PMCID: PMC8144776.
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Exome Sequencing Reveals Novel .

Genetic testing and molecular biomarkers

Salih MA, Hamad MH, Savarese M, Alorainy IA, Al-Jarallah AS, Alkhalidi H, AlQudairy H, Albader A, Alotaibi AJ, Alsagob M, Al-Bakheet A, Colak D, Udd B, Kaya N.
PMID: 34918981
Genet Test Mol Biomarkers. 2021 Dec;25(12):757-764. doi: 10.1089/gtmb.2021.0085.

No abstract available.

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Salih MA, Hamad MH, Savarese M, et al. Exome Sequencing Reveals Novel . Genet Test Mol Biomarkers. 2021;25(12):757-764doi: 10.1089/gtmb.2021.0085.
Salih, M. A., Hamad, M. H., Savarese, M., Alorainy, I. A., Al-Jarallah, A. S., Alkhalidi, H., AlQudairy, H., Albader, A., Alotaibi, A. J., Alsagob, M., Al-Bakheet, A., Colak, D., Udd, B., & Kaya, N. (2021). Exome Sequencing Reveals Novel . Genetic testing and molecular biomarkers, 25(12), 757-764. https://doi.org/10.1089/gtmb.2021.0085
Salih, Mustafa A, et al. "Exome Sequencing Reveals Novel ." Genetic testing and molecular biomarkers vol. 25,12 (2021): 757-764. doi: https://doi.org/10.1089/gtmb.2021.0085
Salih MA, Hamad MH, Savarese M, Alorainy IA, Al-Jarallah AS, Alkhalidi H, AlQudairy H, Albader A, Alotaibi AJ, Alsagob M, Al-Bakheet A, Colak D, Udd B, Kaya N. Exome Sequencing Reveals Novel . Genet Test Mol Biomarkers. 2021 Dec;25(12):757-764. doi: 10.1089/gtmb.2021.0085. PMID: 34918981.
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Right and Left-Sided Carcinoid Heart Disease in the Setting of Selective Serotonin Reuptake Inhibitor Use.

JACC. Case reports

Bell J, Alhudairy M, Kazakova V, Johnstone M, Tsao L.
PMID: 33106792
JACC Case Rep. 2020 Oct;2(12):1841-1844. doi: 10.1016/j.jaccas.2020.07.060. Epub 2020 Oct 21.

Carcinoid heart disease is a complication of carcinoid syndrome. The role of selective serotonin reuptake inhibitors in carcinoid heart disease is unclear. We present a case of refractory heart failure due to right- and left-sided carcinoid heart disease in...

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Bell J, Alhudairy M, Kazakova V, et al. Right and Left-Sided Carcinoid Heart Disease in the Setting of Selective Serotonin Reuptake Inhibitor Use. JACC Case Rep. 2020;2(12):1841-1844doi: 10.1016/j.jaccas.2020.07.060.
Bell, J., Alhudairy, M., Kazakova, V., Johnstone, M., & Tsao, L. (2020). Right and Left-Sided Carcinoid Heart Disease in the Setting of Selective Serotonin Reuptake Inhibitor Use. JACC. Case reports, 2(12), 1841-1844. https://doi.org/10.1016/j.jaccas.2020.07.060
Bell, Jennifer, et al. "Right and Left-Sided Carcinoid Heart Disease in the Setting of Selective Serotonin Reuptake Inhibitor Use." JACC. Case reports vol. 2,12 (2020): 1841-1844. doi: https://doi.org/10.1016/j.jaccas.2020.07.060
Bell J, Alhudairy M, Kazakova V, Johnstone M, Tsao L. Right and Left-Sided Carcinoid Heart Disease in the Setting of Selective Serotonin Reuptake Inhibitor Use. JACC Case Rep. 2020 Oct;2(12):1841-1844. doi: 10.1016/j.jaccas.2020.07.060. Epub 2020 Oct 21. PMID: 33106792; PMCID: PMC7577728.
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Phenotypic Variability of .

Genes

AlMuhaizea M, Dabbagh O, AlQudairy H, AlHargan A, Alotaibi W, Sami R, AlOtaibi R, Ali MM, AlHindi H, Colak D, Kaya N.
PMID: 34828389
Genes (Basel). 2021 Nov 10;12(11). doi: 10.3390/genes12111783.

Congenital myopathies are rare neuromuscular hereditary disorders that manifest at birth or during infancy and usually appear with muscle weakness and hypotonia. One of such disorders, early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD, OMIM: 614399, MIM: 612453), is...

Cite
AlMuhaizea M, Dabbagh O, AlQudairy H, et al. Phenotypic Variability of . Genes (Basel). 2021;12(11)doi: 10.3390/genes12111783.
AlMuhaizea, M., Dabbagh, O., AlQudairy, H., AlHargan, A., Alotaibi, W., Sami, R., AlOtaibi, R., Ali, M. M., AlHindi, H., Colak, D., & Kaya, N. (2021). Phenotypic Variability of . Genes, 12(11), . https://doi.org/10.3390/genes12111783
AlMuhaizea, Mohammad, et al. "Phenotypic Variability of ." Genes vol. 12,11 (2021). doi: https://doi.org/10.3390/genes12111783
AlMuhaizea M, Dabbagh O, AlQudairy H, AlHargan A, Alotaibi W, Sami R, AlOtaibi R, Ali MM, AlHindi H, Colak D, Kaya N. Phenotypic Variability of . Genes (Basel). 2021 Nov 10;12(11). doi: 10.3390/genes12111783. PMID: 34828389; PMCID: PMC8620084.
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Differential Expression of Human N-Alpha-Acetyltransferase 40 (hNAA40), Nicotinamide Phosphoribosyltransferase (NAMPT) and Sirtuin-1 (SIRT-1) Pathway in Obesity and T2DM: Modulation by Metformin and Macronutrient Intake.

Diabetes, metabolic syndrome and obesity : targets and therapy

Alshahrani A, AlDubayee M, Zahra M, Alsebayel FM, Alammari N, Alsudairy F, Almajed M, Aljada A.
PMID: 31920356
Diabetes Metab Syndr Obes. 2019 Dec 27;12:2765-2774. doi: 10.2147/DMSO.S228591. eCollection 2019.

BACKGROUND: Interactions between environmental factors, such as diet and lifestyle, and metabolic pathways are pivotal in understanding aging mechanisms. hNAA40, Nicotinamide phosphoribosyltransferase (NAMPT), and NAD-dependent protein deacetylase sirtuin-1 (SIRT-1) have been shown to exert important biological processes, including stress...

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Alshahrani A, AlDubayee M, Zahra M, et al. Differential Expression of Human N-Alpha-Acetyltransferase 40 (hNAA40), Nicotinamide Phosphoribosyltransferase (NAMPT) and Sirtuin-1 (SIRT-1) Pathway in Obesity and T2DM: Modulation by Metformin and Macronutrient Intake. Diabetes Metab Syndr Obes. 2019;12:2765-2774doi: 10.2147/DMSO.S228591.
Alshahrani, A., AlDubayee, M., Zahra, M., Alsebayel, F. M., Alammari, N., Alsudairy, F., Almajed, M., & Aljada, A. (2019). Differential Expression of Human N-Alpha-Acetyltransferase 40 (hNAA40), Nicotinamide Phosphoribosyltransferase (NAMPT) and Sirtuin-1 (SIRT-1) Pathway in Obesity and T2DM: Modulation by Metformin and Macronutrient Intake. Diabetes, metabolic syndrome and obesity : targets and therapy, 122765-2774. https://doi.org/10.2147/DMSO.S228591
Alshahrani, Awad, et al. "Differential Expression of Human N-Alpha-Acetyltransferase 40 (hNAA40), Nicotinamide Phosphoribosyltransferase (NAMPT) and Sirtuin-1 (SIRT-1) Pathway in Obesity and T2DM: Modulation by Metformin and Macronutrient Intake." Diabetes, metabolic syndrome and obesity : targets and therapy vol. 12 (2019): 2765-2774. doi: https://doi.org/10.2147/DMSO.S228591
Alshahrani A, AlDubayee M, Zahra M, Alsebayel FM, Alammari N, Alsudairy F, Almajed M, Aljada A. Differential Expression of Human N-Alpha-Acetyltransferase 40 (hNAA40), Nicotinamide Phosphoribosyltransferase (NAMPT) and Sirtuin-1 (SIRT-1) Pathway in Obesity and T2DM: Modulation by Metformin and Macronutrient Intake. Diabetes Metab Syndr Obes. 2019 Dec 27;12:2765-2774. doi: 10.2147/DMSO.S228591. eCollection 2019. PMID: 31920356; PMCID: PMC6938199.
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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Human mutation

Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H.
PMID: 34989426
Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analysing...

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Scala M, Wortmann SB, Kaya N, et al. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022;doi: 10.1002/humu.24326.
Scala, M., Wortmann, S. B., Kaya, N., Stellingwerff, M. D., Pistorio, A., Glamuzina, E., van Karnebeek, C. D., Skrypnyk, C., Iwanicka-Pronicka, K., Piekutowska-Abramczuk, D., Ciara, E., Tort, F., Sheidley, B., Poduri, A., Jayakar, P., Jayakar, A., Upadia, J., Walano, N., Haack, T. B., Prokisch, H., Aldhalaan, H., Karimiani, E. G., Yildiz, Y., Ceylan, A. C., Santiago-Sim, T., Dameron, A., Yang, H., Toosi, M. B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H. S., Maqbool, S., Farid, A., Al-Muhaizea, M. A., Alshwameen, M. O., Aldowsari, L., Alsagob, M., Alyousef, A., AlMass, R., AlHargan, A., Alwadei, A. H., AlRasheed, M. M., Colak, D., Alqudairy, H., Khan, S., Lines, M. A., García Cazorla, M. �. �., Ribes, A., Morava, E., Bibi, F., Haider, S., Ferla, M. P., Taylor, J. C., Alsaif, H. S., Firdous, A., Hashem, M., Shashkin, C., Koneev, K., Kaiyrzhanov, R., Efthymiou, S., Genomics, Q. S., Schmitt-Mechelke, T., Ziegler, A., Issa, M. Y., Elbendary, H. M., Striano, P., Alkuraya, F. S., Zaki, M. S., Gleeson, J. G., Barakat, T. S., Bierau, J., van der Knaap, M. S., Maroofian, R., & Houlden, H. (2022). Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Human mutation, . https://doi.org/10.1002/humu.24326
Scala, Marcello, et al. "Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency." Human mutation vol. (2022). doi: https://doi.org/10.1002/humu.24326
Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H. Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06. PMID: 34989426.
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Showing 1 to 12 of 13 entries