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Dietary practices in propionic acidemia: A European survey.

Molecular genetics and metabolism reports

Daly A, Pinto A, Evans S, Almeida MF, Assoun M, Belanger-Quintana A, Bernabei SM, Bollhalder S, Cassiman D, Champion H, Chan H, Dalmau J, de Boer F, de Laet C, de Meyer A, Desloovere A, Dianin A, Dixon M, Dokoupil K, Dubois S, Eyskens F, Faria A, Fasan I, Favre E, Feillet F, Fekete A, Gallo G, Gingell C, Gribben J, Kaalund Hansen K, Ter Horst NM, Jankowski C, Janssen-Regelink R, Jones I, Jouault C, Kahrs GE, Kok IL, Kowalik A, Laguerre C, Le Verge S, Lilje R, Maddalon C, Mayr D, Meyer U, Micciche A, Och U, Robert M, Rocha JC, Rogozinski H, Rohde C, Ross K, Saruggia I, Schlune A, Singleton K, Sjoqvist E, Skeath R, Stolen LH, Terry A, Timmer C, Tomlinson L, Tooke A, Vande Kerckhove K, van Dam E, van den Hurk T, van der Ploeg L, van Driessche M, van Rijn M, van Wegberg A, Vasconcelos C, Vestergaard H, Vitoria I, Webster D, White FJ, White L, Zweers H, MacDonald A.
PMID: 29021961
Mol Genet Metab Rep. 2017 Oct 03;13:83-89. doi: 10.1016/j.ymgmr.2017.09.002. eCollection 2017 Dec.

BACKGROUND: The definitive dietary management of propionic acidaemia (PA) is unknown although natural protein restriction with adequate energy provision is of key importance.AIM: To describe European dietary practices in the management of patients with PA prior to the publication...

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Daly A, Pinto A, Evans S, et al. Dietary practices in propionic acidemia: A European survey. Mol Genet Metab Rep. 2017;13:83-89doi: 10.1016/j.ymgmr.2017.09.002.
Daly, A., Pinto, A., Evans, S., Almeida, M. F., Assoun, M., Belanger-Quintana, A., Bernabei, S. M., Bollhalder, S., Cassiman, D., Champion, H., Chan, H., Dalmau, J., de Boer, F., de Laet, C., de Meyer, A., Desloovere, A., Dianin, A., Dixon, M., Dokoupil, K., Dubois, S., Eyskens, F., Faria, A., Fasan, I., Favre, E., Feillet, F., Fekete, A., Gallo, G., Gingell, C., Gribben, J., Kaalund Hansen, K., Ter Horst, N. M., Jankowski, C., Janssen-Regelink, R., Jones, I., Jouault, C., Kahrs, G. E., Kok, I. L., Kowalik, A., Laguerre, C., Le Verge, S., Lilje, R., Maddalon, C., Mayr, D., Meyer, U., Micciche, A., Och, U., Robert, M., Rocha, J. C., Rogozinski, H., Rohde, C., Ross, K., Saruggia, I., Schlune, A., Singleton, K., Sjoqvist, E., Skeath, R., Stolen, L. H., Terry, A., Timmer, C., Tomlinson, L., Tooke, A., Vande Kerckhove, K., van Dam, E., van den Hurk, T., van der Ploeg, L., van Driessche, M., van Rijn, M., van Wegberg, A., Vasconcelos, C., Vestergaard, H., Vitoria, I., Webster, D., White, F. J., White, L., Zweers, H., & MacDonald, A. (2017). Dietary practices in propionic acidemia: A European survey. Molecular genetics and metabolism reports, 1383-89. https://doi.org/10.1016/j.ymgmr.2017.09.002
Daly, A, et al. "Dietary practices in propionic acidemia: A European survey." Molecular genetics and metabolism reports vol. 13 (2017): 83-89. doi: https://doi.org/10.1016/j.ymgmr.2017.09.002
Daly A, Pinto A, Evans S, Almeida MF, Assoun M, Belanger-Quintana A, Bernabei SM, Bollhalder S, Cassiman D, Champion H, Chan H, Dalmau J, de Boer F, de Laet C, de Meyer A, Desloovere A, Dianin A, Dixon M, Dokoupil K, Dubois S, Eyskens F, Faria A, Fasan I, Favre E, Feillet F, Fekete A, Gallo G, Gingell C, Gribben J, Kaalund Hansen K, Ter Horst NM, Jankowski C, Janssen-Regelink R, Jones I, Jouault C, Kahrs GE, Kok IL, Kowalik A, Laguerre C, Le Verge S, Lilje R, Maddalon C, Mayr D, Meyer U, Micciche A, Och U, Robert M, Rocha JC, Rogozinski H, Rohde C, Ross K, Saruggia I, Schlune A, Singleton K, Sjoqvist E, Skeath R, Stolen LH, Terry A, Timmer C, Tomlinson L, Tooke A, Vande Kerckhove K, van Dam E, van den Hurk T, van der Ploeg L, van Driessche M, van Rijn M, van Wegberg A, Vasconcelos C, Vestergaard H, Vitoria I, Webster D, White FJ, White L, Zweers H, MacDonald A. Dietary practices in propionic acidemia: A European survey. Mol Genet Metab Rep. 2017 Oct 03;13:83-89. doi: 10.1016/j.ymgmr.2017.09.002. eCollection 2017 Dec. PMID: 29021961; PMCID: PMC5633157.
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Identification of a novel PEX14 mutation in Zellweger syndrome.

BMJ case reports

Huybrechts SJ, Van Veldhoven PP, Hoffman I, Zeevaert R, de Vos R, Demaerel P, Brams M, Jaeken J, Fransen M, Cassiman D.
PMID: 21686775
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.07.2008.0503. Epub 2009 Jan 23.

Here we report a patient with Zellweger syndrome, who presented at the age of 3 months with icterus, dystrophy, axial hypotonia, and hepatomegaly. Abnormal findings of metabolic screening tests included hyperbilirubinaemia, hypoketotic dicarboxylic aciduria, increased C(26:0) and decreased C(22:0)...

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Huybrechts SJ, Van Veldhoven PP, Hoffman I, et al. Identification of a novel PEX14 mutation in Zellweger syndrome. BMJ Case Rep. 2009;2009doi: 10.1136/bcr.07.2008.0503.
Huybrechts, S. J., Van Veldhoven, P. P., Hoffman, I., Zeevaert, R., de Vos, R., Demaerel, P., Brams, M., Jaeken, J., Fransen, M., & Cassiman, D. (2009). Identification of a novel PEX14 mutation in Zellweger syndrome. BMJ case reports, 2009. https://doi.org/10.1136/bcr.07.2008.0503
Huybrechts, Sofie J, et al. "Identification of a novel PEX14 mutation in Zellweger syndrome." BMJ case reports vol. 2009 (2009). doi: https://doi.org/10.1136/bcr.07.2008.0503
Huybrechts SJ, Van Veldhoven PP, Hoffman I, Zeevaert R, de Vos R, Demaerel P, Brams M, Jaeken J, Fransen M, Cassiman D. Identification of a novel PEX14 mutation in Zellweger syndrome. BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.07.2008.0503. Epub 2009 Jan 23. PMID: 21686775; PMCID: PMC3027610.
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Definitions of genetic testing in European legal documents.

Journal of community genetics

Varga O, Soini S, Kääriäinen H, Cassiman JJ, Nippert I, Rogowski W, Nys H, Kristoffersson U, Schmidtke J, Sequeiros J.
PMID: 22278813
J Community Genet. 2012 Apr;3(2):125-41. doi: 10.1007/s12687-012-0077-1. Epub 2012 Jan 26.

The definition of "genetic testing" is not a simple matter, and the term is often used with different meanings. The purpose of this work was the collection and analysis of European (and other) legislation and policy instruments regarding genetic...

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Varga O, Soini S, Kääriäinen H, et al. Definitions of genetic testing in European legal documents. J Community Genet. 2012;3(2):125-41doi: 10.1007/s12687-012-0077-1.
Varga, O., Soini, S., Kääriäinen, H., Cassiman, J. J., Nippert, I., Rogowski, W., Nys, H., Kristoffersson, U., Schmidtke, J., & Sequeiros, J. (2012). Definitions of genetic testing in European legal documents. Journal of community genetics, 3(2), 125-41. https://doi.org/10.1007/s12687-012-0077-1
Varga, Orsolya, et al. "Definitions of genetic testing in European legal documents." Journal of community genetics vol. 3,2 (2012): 125-41. doi: https://doi.org/10.1007/s12687-012-0077-1
Varga O, Soini S, Kääriäinen H, Cassiman JJ, Nippert I, Rogowski W, Nys H, Kristoffersson U, Schmidtke J, Sequeiros J. Definitions of genetic testing in European legal documents. J Community Genet. 2012 Apr;3(2):125-41. doi: 10.1007/s12687-012-0077-1. Epub 2012 Jan 26. PMID: 22278813; PMCID: PMC3312943.
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A Patient with neonatal cholestasis.

Journal of mother and child

Claeys KG, Breysem L, Legius E, Brems H, Cassiman D, Moisse M, Vermeersch P, Levtchenko E, Jaeken J.
PMID: 33684277
J Mother Child. 2021 Jul 16;24(4):31-33. doi: 10.34763/jmotherandchild.20202404.d-20-00012.

The patient, a boy born in 1991, showed pronounced polyostotic fibrous dysplasia due to McCune-Albright syndrome, as well as Gilbert syndrome and Charcot-Marie-Tooth neuropathy caused by a

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Claeys KG, Breysem L, Legius E, et al. A Patient with neonatal cholestasis. J Mother Child. 2021;24(4):31-33doi: 10.34763/jmotherandchild.20202404.d-20-00012.
Claeys, K. G., Breysem, L., Legius, E., Brems, H., Cassiman, D., Moisse, M., Vermeersch, P., Levtchenko, E., & Jaeken, J. (2021). A Patient with neonatal cholestasis. Journal of mother and child, 24(4), 31-33. https://doi.org/10.34763/jmotherandchild.20202404.d-20-00012
Claeys, Kristl G, et al. "A Patient with neonatal cholestasis." Journal of mother and child vol. 24,4 (2021): 31-33. doi: https://doi.org/10.34763/jmotherandchild.20202404.d-20-00012
Claeys KG, Breysem L, Legius E, Brems H, Cassiman D, Moisse M, Vermeersch P, Levtchenko E, Jaeken J. A Patient with neonatal cholestasis. J Mother Child. 2021 Jul 16;24(4):31-33. doi: 10.34763/jmotherandchild.20202404.d-20-00012. PMID: 33684277; PMCID: PMC8330358.
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Genetics in primary congenital glaucoma: Implications in disease management and counseling.

European journal of medical genetics

Leysen L, Cassiman C, Vermeer S, Casteels I, Balikova I.
PMID: 34748994
Eur J Med Genet. 2022 Jan;65(1):104378. doi: 10.1016/j.ejmg.2021.104378. Epub 2021 Nov 05.

Primary congenital glaucoma is an important cause of visual impairment in children. It can develop both pre- and postnatally. Angle surgery is the first line treatment modality. If the disease remains untreated or if the diagnosis is delayed, it...

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Leysen L, Cassiman C, Vermeer S, et al. Genetics in primary congenital glaucoma: Implications in disease management and counseling. Eur J Med Genet. 2021;65(1):104378doi: 10.1016/j.ejmg.2021.104378.
Leysen, L., Cassiman, C., Vermeer, S., Casteels, I., & Balikova, I. (2022). Genetics in primary congenital glaucoma: Implications in disease management and counseling. European journal of medical genetics, 65(1), 104378. https://doi.org/10.1016/j.ejmg.2021.104378
Leysen, L, et al. "Genetics in primary congenital glaucoma: Implications in disease management and counseling." European journal of medical genetics vol. 65,1 (2022): 104378. doi: https://doi.org/10.1016/j.ejmg.2021.104378
Leysen L, Cassiman C, Vermeer S, Casteels I, Balikova I. Genetics in primary congenital glaucoma: Implications in disease management and counseling. Eur J Med Genet. 2022 Jan;65(1):104378. doi: 10.1016/j.ejmg.2021.104378. Epub 2021 Nov 05. PMID: 34748994.
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Genetics in primary congenital glaucoma: Implications in disease management and counseling.

European journal of medical genetics

Leysen L, Cassiman C, Vermeer S, Casteels I, Balikova I.
PMID: 34748994
Eur J Med Genet. 2021 Nov 05;65(1):104378. doi: 10.1016/j.ejmg.2021.104378. Epub 2021 Nov 05.

Primary congenital glaucoma is an important cause of visual impairment in children. It can develop both pre- and postnatally. Angle surgery is the first line treatment modality. If the disease remains untreated or if the diagnosis is delayed, it...

Cite
Leysen L, Cassiman C, Vermeer S, et al. Genetics in primary congenital glaucoma: Implications in disease management and counseling. Eur J Med Genet. 2021;65(1):104378doi: 10.1016/j.ejmg.2021.104378.
Leysen, L., Cassiman, C., Vermeer, S., Casteels, I., & Balikova, I. (2021). Genetics in primary congenital glaucoma: Implications in disease management and counseling. European journal of medical genetics, 65(1), 104378. https://doi.org/10.1016/j.ejmg.2021.104378
Leysen, L, et al. "Genetics in primary congenital glaucoma: Implications in disease management and counseling." European journal of medical genetics vol. 65,1 (2021): 104378. doi: https://doi.org/10.1016/j.ejmg.2021.104378
Leysen L, Cassiman C, Vermeer S, Casteels I, Balikova I. Genetics in primary congenital glaucoma: Implications in disease management and counseling. Eur J Med Genet. 2021 Nov 05;65(1):104378. doi: 10.1016/j.ejmg.2021.104378. Epub 2021 Nov 05. PMID: 34748994.
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Insights into multiple sclerosis-associated uveitis: a scoping review.

Acta ophthalmologica

Casselman P, Cassiman C, Casteels I, Schauwvlieghe PP.
PMID: 33326162
Acta Ophthalmol. 2021 Sep;99(6):592-603. doi: 10.1111/aos.14697. Epub 2020 Dec 16.

PURPOSE: This paper is a scoping review of research on multiple sclerosis (MS)-associated uveitis to determine its epidemiology, pathophysiology, clinical features and treatment.METHODS: A comprehensive search of the medical databases MEDLINE (PubMed), EMBASE, Web of Science and Cochrane was...

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Casselman P, Cassiman C, Casteels I, et al. Insights into multiple sclerosis-associated uveitis: a scoping review. Acta Ophthalmol. 2020;99(6):592-603doi: 10.1111/aos.14697.
Casselman, P., Cassiman, C., Casteels, I., & Schauwvlieghe, P. P. (2021). Insights into multiple sclerosis-associated uveitis: a scoping review. Acta ophthalmologica, 99(6), 592-603. https://doi.org/10.1111/aos.14697
Casselman, Pauline, et al. "Insights into multiple sclerosis-associated uveitis: a scoping review." Acta ophthalmologica vol. 99,6 (2021): 592-603. doi: https://doi.org/10.1111/aos.14697
Casselman P, Cassiman C, Casteels I, Schauwvlieghe PP. Insights into multiple sclerosis-associated uveitis: a scoping review. Acta Ophthalmol. 2021 Sep;99(6):592-603. doi: 10.1111/aos.14697. Epub 2020 Dec 16. PMID: 33326162.
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Acute bilateral serous retinal detachments with spontaneous resolution in a 6-year-old boy.

GMS ophthalmology cases

Van Camp S, Vande Walle S, Casteels I, Jacob J, Cassiman C, Wouters C, Schauwvlieghe PP.
PMID: 32884891
GMS Ophthalmol Cases. 2020 Aug 25;10:Doc37. doi: 10.3205/oc000164. eCollection 2020.

A healthy 6-year-old boy presented with acute bilateral vision loss, multiple serous retinal detachments between the vascular arcades and a thickened choroid. Spontaneous resolution occurred over several weeks. We hypothesize that the clinical constellation in our patient is suggestive...

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Van Camp S, Vande Walle S, Casteels I, et al. Acute bilateral serous retinal detachments with spontaneous resolution in a 6-year-old boy. GMS Ophthalmol Cases. 2020;10:Doc37doi: 10.3205/oc000164.
Van Camp, S., Vande Walle, S., Casteels, I., Jacob, J., Cassiman, C., Wouters, C., & Schauwvlieghe, P. P. (2020). Acute bilateral serous retinal detachments with spontaneous resolution in a 6-year-old boy. GMS ophthalmology cases, 10Doc37. https://doi.org/10.3205/oc000164
Van Camp, Sophie, et al. "Acute bilateral serous retinal detachments with spontaneous resolution in a 6-year-old boy." GMS ophthalmology cases vol. 10 (2020): Doc37. doi: https://doi.org/10.3205/oc000164
Van Camp S, Vande Walle S, Casteels I, Jacob J, Cassiman C, Wouters C, Schauwvlieghe PP. Acute bilateral serous retinal detachments with spontaneous resolution in a 6-year-old boy. GMS Ophthalmol Cases. 2020 Aug 25;10:Doc37. doi: 10.3205/oc000164. eCollection 2020. PMID: 32884891; PMCID: PMC7452953.
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Novel .

Molecular therapy. Methods & clinical development

In 't Groen SLM, de Faria DOS, Iuliano A, van den Hout JMP, Douben H, Dijkhuizen T, Cassiman D, Witters P, Barba Romero MÁ, de Klein A, Somers-Bolman GM, Saris JJ, Hoefsloot LH, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP.
PMID: 32071926
Mol Ther Methods Clin Dev. 2020 Jan 13;17:337-348. doi: 10.1016/j.omtm.2019.12.016. eCollection 2020 Jun 12.

Pompe disease is a metabolic disorder caused by a deficiency of the glycogen-hydrolyzing lysosomal enzyme acid α-glucosidase (GAA), which leads to progressive muscle wasting. This autosomal-recessive disorder is the result of disease-associated variants located in the

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In 't Groen SLM, de Faria DOS, Iuliano A, et al. Novel . Mol Ther Methods Clin Dev. 2020;17:337-348doi: 10.1016/j.omtm.2019.12.016.
In 't Groen, S. L. M., de Faria, D. O. S., Iuliano, A., van den Hout, J. M. P., Douben, H., Dijkhuizen, T., Cassiman, D., Witters, P., Barba Romero, M. �. �., de Klein, A., Somers-Bolman, G. M., Saris, J. J., Hoefsloot, L. H., van der Ploeg, A. T., Bergsma, A. J., & Pijnappel, W. W. M. P. (2020). Novel . Molecular therapy. Methods & clinical development, 17337-348. https://doi.org/10.1016/j.omtm.2019.12.016
In 't Groen, Stijn L M, et al. "Novel ." Molecular therapy. Methods & clinical development vol. 17 (2020): 337-348. doi: https://doi.org/10.1016/j.omtm.2019.12.016
In 't Groen SLM, de Faria DOS, Iuliano A, van den Hout JMP, Douben H, Dijkhuizen T, Cassiman D, Witters P, Barba Romero MÁ, de Klein A, Somers-Bolman GM, Saris JJ, Hoefsloot LH, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP. Novel . Mol Ther Methods Clin Dev. 2020 Jan 13;17:337-348. doi: 10.1016/j.omtm.2019.12.016. eCollection 2020 Jun 12. PMID: 32071926; PMCID: PMC7013133.
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Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis.

JIMD reports

Besouw M, Cornelissen E, Cassiman D, Kluijtmans L, van den Heuvel L, Levtchenko E.
PMID: 24798266
JIMD Rep. 2014;16:25-30. doi: 10.1007/8904_2014_312. Epub 2014 May 06.

BACKGROUND: Cystinosis is an autosomal recessive disorder marked by intralysosomal cystine accumulation. Patients present with generalized proximal tubular dysfunction called renal Fanconi syndrome. Urinary carnitine loss results in plasma and muscle carnitine deficiency, but no clinical signs of carnitine...

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Besouw M, Cornelissen E, Cassiman D, et al. Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis. JIMD Rep. 2014;16:25-30doi: 10.1007/8904_2014_312.
Besouw, M., Cornelissen, E., Cassiman, D., Kluijtmans, L., van den Heuvel, L., & Levtchenko, E. (2014). Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis. JIMD reports, 1625-30. https://doi.org/10.1007/8904_2014_312
Besouw, M, et al. "Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis." JIMD reports vol. 16 (2014): 25-30. doi: https://doi.org/10.1007/8904_2014_312
Besouw M, Cornelissen E, Cassiman D, Kluijtmans L, van den Heuvel L, Levtchenko E. Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis. JIMD Rep. 2014;16:25-30. doi: 10.1007/8904_2014_312. Epub 2014 May 06. PMID: 24798266; PMCID: PMC4221611.
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Some considerations about a report on 'Public health in an era of genomic-based and personalized medicine' from the Public Health Foundation, Cambridge.

Journal of community genetics

Cassiman JJ.
PMID: 22109796
J Community Genet. 2011 Jun;2(2):107-9. doi: 10.1007/s12687-011-0041-5. Epub 2011 Feb 19.

No abstract available.

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Cassiman JJ. Some considerations about a report on 'Public health in an era of genomic-based and personalized medicine' from the Public Health Foundation, Cambridge. J Community Genet. 2011;2(2):107-9doi: 10.1007/s12687-011-0041-5.
Cassiman, J. J. (2011). Some considerations about a report on 'Public health in an era of genomic-based and personalized medicine' from the Public Health Foundation, Cambridge. Journal of community genetics, 2(2), 107-9. https://doi.org/10.1007/s12687-011-0041-5
Cassiman, Jean-Jacques. "Some considerations about a report on 'Public health in an era of genomic-based and personalized medicine' from the Public Health Foundation, Cambridge." Journal of community genetics vol. 2,2 (2011): 107-9. doi: https://doi.org/10.1007/s12687-011-0041-5
Cassiman JJ. Some considerations about a report on 'Public health in an era of genomic-based and personalized medicine' from the Public Health Foundation, Cambridge. J Community Genet. 2011 Jun;2(2):107-9. doi: 10.1007/s12687-011-0041-5. Epub 2011 Feb 19. PMID: 22109796; PMCID: PMC3186027.
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Mutation (variation) databases and registries: a rationale for coordination of efforts.

Nature reviews. Genetics

Auerbach AD, Burn J, Cassiman JJ, Claustres M, Cotton RG, Cutting G, den Dunnen JT, El-Ruby M, Vargas AF, Greenblatt MS, Macrae F, Matsubara Y, Rimoin DL, Vihinen M, Van Broeckhoven C.
PMID: 22025002
Nat Rev Genet. 2011 Oct 25;12(12):881; discussion 881. doi: 10.1038/nrg3011-c1.

No abstract available.

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Auerbach AD, Burn J, Cassiman JJ, et al. Mutation (variation) databases and registries: a rationale for coordination of efforts. Nat Rev Genet. 2011;12(12):881; discussion 881doi: 10.1038/nrg3011-c1.
Auerbach, A. D., Burn, J., Cassiman, J. J., Claustres, M., Cotton, R. G., Cutting, G., den Dunnen, J. T., El-Ruby, M., Vargas, A. F., Greenblatt, M. S., Macrae, F., Matsubara, Y., Rimoin, D. L., Vihinen, M., & Van Broeckhoven, C. (2011). Mutation (variation) databases and registries: a rationale for coordination of efforts. Nature reviews. Genetics, 12(12), 881; discussion 881. https://doi.org/10.1038/nrg3011-c1
Auerbach, Arleen D, et al. "Mutation (variation) databases and registries: a rationale for coordination of efforts." Nature reviews. Genetics vol. 12,12 (2011): 881; discussion 881. doi: https://doi.org/10.1038/nrg3011-c1
Auerbach AD, Burn J, Cassiman JJ, Claustres M, Cotton RG, Cutting G, den Dunnen JT, El-Ruby M, Vargas AF, Greenblatt MS, Macrae F, Matsubara Y, Rimoin DL, Vihinen M, Van Broeckhoven C. Mutation (variation) databases and registries: a rationale for coordination of efforts. Nat Rev Genet. 2011 Oct 25;12(12):881; discussion 881. doi: 10.1038/nrg3011-c1. PMID: 22025002.
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