Lionel Van Maldergem - JoVE Visualize

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Orphanet Journal of Rare Diseases|April 18, 2015

Phenotypic and molecular insights into CASK-related disorders in malesUte Moog, Tatjana Bierhals, Kristina Brand, et al.

Clinical Genetics|June 28, 2019

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlationsFlavie Ader, Pascal De Groote, Patricia Réant, et al.

Molecular Psychiatry|November 29, 2023

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndromeJérémie Courraud, Camille Engel, Angélique Quartier, et al.

American Journal of Medical Genetics. Part A|February 14, 2013

Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn diseaseHelga V Toriello, Miriam Erick, Jean-Luc Alessandri, et al.

Human Molecular Genetics|April 26, 2013

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowthLionel Van Maldergem, Qingming Hou, Vera M Kalscheuer, et al.

Diabetes|May 27, 2003

Prevalence of mutations in AGPAT2 among human lipodystrophiesJocelyne Magré, Marc Delépine, Lionel Van Maldergem, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2020

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairmentThomas Roux, Mathieu Barbier, Mélanie Papin, et al.

Journal of Medical Genetics|December 11, 2017

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequencesSolveig Heide, Sandra Chantot-Bastaraud, Boris Keren, et al.

Human Mutation|November 22, 2008

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencingChristel Thauvin-Robinet, Brunella Franco, Pascale Saugier-Veber, et al.

American Journal of Human Genetics|May 25, 2010

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritabilityFeng Zhang, Pavel Seeman, Pengfei Liu, et al.

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Showing results (51-60 of 124) with videos related to

Sort By:

Pageof 13

Orphanet Journal of Rare Diseases|April 18, 2015

Phenotypic and molecular insights into CASK-related disorders in malesUte Moog, Tatjana Bierhals, Kristina Brand, et al.

Clinical Genetics|June 28, 2019

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlationsFlavie Ader, Pascal De Groote, Patricia Réant, et al.

Molecular Psychiatry|November 29, 2023

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndromeJérémie Courraud, Camille Engel, Angélique Quartier, et al.

American Journal of Medical Genetics. Part A|February 14, 2013

Maternal vitamin K deficient embryopathy: association with hyperemesis gravidarum and Crohn diseaseHelga V Toriello, Miriam Erick, Jean-Luc Alessandri, et al.

Human Molecular Genetics|April 26, 2013

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowthLionel Van Maldergem, Qingming Hou, Vera M Kalscheuer, et al.

Diabetes|May 27, 2003

Prevalence of mutations in AGPAT2 among human lipodystrophiesJocelyne Magré, Marc Delépine, Lionel Van Maldergem, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2020

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairmentThomas Roux, Mathieu Barbier, Mélanie Papin, et al.

Journal of Medical Genetics|December 11, 2017

Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequencesSolveig Heide, Sandra Chantot-Bastaraud, Boris Keren, et al.

Human Mutation|November 22, 2008

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencingChristel Thauvin-Robinet, Brunella Franco, Pascale Saugier-Veber, et al.

American Journal of Human Genetics|May 25, 2010

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritabilityFeng Zhang, Pavel Seeman, Pengfei Liu, et al.

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