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Yline Capri

Showing results (21-30 of 93) with videos related to

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European Journal of Medical Genetics|July 12, 2015
Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestationsSophie Brisset, Yline Capri, Audrey Briand-Suleau, et al.
Acta Neuropathologica Communications|May 3, 2017
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ genePascale Saugier-Veber, Florent Marguet, François Lecoquierre, et al.
American Journal of Medical Genetics. Part A|June 3, 2017
Molecular and clinical delineation of 2p15p16.1 microdeletion syndromeJonathan Lévy, Aurélie Coussement, Céline Dupont, et al.
JIMD Reports|February 28, 2016
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle VariantsJuliette Bouchereau, Sandrine Vuillaumier Barrot, Thierry Dupré, et al.
Clinical Genetics|June 20, 2020
Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counselingSarah Baer, Cathy Obringer, Sophie Julia, et al.
European Journal of Medical Genetics|February 15, 2012
A new lysosomal storage disorder resembling Morquio syndrome in sibsLaurence Perrin, Odile Fenneteau, Brice Ilharreborde, et al.
European Journal of Medical Genetics|November 19, 2013
Duplication of the 15q11-q13 region: clinical and genetic study of 30 new casesEssam Al Ageeli, Séverine Drunat, Catherine Delanoë, et al.
Human Mutation|April 10, 2013
Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlationYline Capri, Edith C H Friesema, Simone Kersseboom, et al.
Clinical Genetics|June 26, 2019
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature reviewVaroona Bizaoui, Caroline Michot, Geneviève Baujat, et al.
Clinical Genetics|April 2, 2020
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variantsEmmanuelle Ranza, Anne Guimier, Alain Verloes, et al.
Pageof 10

Showing results (21-30 of 93) with videos related to

Sort By:
Pageof 10
European Journal of Medical Genetics|July 12, 2015
Inherited 1q21.1q21.2 duplication and 16p11.2 deletion: a two-hit case with more severe clinical manifestationsSophie Brisset, Yline Capri, Audrey Briand-Suleau, et al.
Acta Neuropathologica Communications|May 3, 2017
Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ genePascale Saugier-Veber, Florent Marguet, François Lecoquierre, et al.
American Journal of Medical Genetics. Part A|June 3, 2017
Molecular and clinical delineation of 2p15p16.1 microdeletion syndromeJonathan Lévy, Aurélie Coussement, Céline Dupont, et al.
JIMD Reports|February 28, 2016
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle VariantsJuliette Bouchereau, Sandrine Vuillaumier Barrot, Thierry Dupré, et al.
Clinical Genetics|June 20, 2020
Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counselingSarah Baer, Cathy Obringer, Sophie Julia, et al.
European Journal of Medical Genetics|February 15, 2012
A new lysosomal storage disorder resembling Morquio syndrome in sibsLaurence Perrin, Odile Fenneteau, Brice Ilharreborde, et al.
European Journal of Medical Genetics|November 19, 2013
Duplication of the 15q11-q13 region: clinical and genetic study of 30 new casesEssam Al Ageeli, Séverine Drunat, Catherine Delanoë, et al.
Human Mutation|April 10, 2013
Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlationYline Capri, Edith C H Friesema, Simone Kersseboom, et al.
Clinical Genetics|June 26, 2019
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature reviewVaroona Bizaoui, Caroline Michot, Geneviève Baujat, et al.
Clinical Genetics|April 2, 2020
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variantsEmmanuelle Ranza, Anne Guimier, Alain Verloes, et al.
Pageof 10