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Jacek Majewski

Showing results (201-210 of 333) with videos related to

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American Journal of Human Genetics|November 27, 2015
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in HumansHanan Shamseldin, Anas M Alazami, Melanie Manning, et al.
Molecular Genetics and Metabolism|March 20, 2025
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disordersAnthony C T Cheung, Erminia Di Pietro, Catherine Argyriou, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia casesKarine Choquet, Martine Tétreault, Sharon Yang, et al.
Journal of Medical Genetics|June 23, 2016
Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral headWayne Mah, Swapnil K Sonkusare, Tracy Wang, et al.
Journal of Medical Genetics|February 26, 2013
ARHGDIA: a novel gene implicated in nephrotic syndromeIndra Rani Gupta, Cindy Baldwin, David Auguste, et al.
American Journal of Human Genetics|January 8, 2013
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2Pierre Moffatt, Mouna Ben Amor, Francis H Glorieux, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genesBlanka Stibůrková, Jacek Majewski, Katerina Hodanová, et al.
Journal of Medical Genetics|April 8, 2014
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasiaAmanda C Smith, Alan J Mears, Ryan Bunker, et al.
The Journal of Experimental Medicine|November 19, 2014
CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammationJames M Kennedy, Nassima Fodil, Sabrina Torre, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACEJulie Richer, Hussein Daoud, Pavel Geier, et al.
Pageof 34

Showing results (201-210 of 333) with videos related to

Sort By:
Pageof 34
American Journal of Human Genetics|November 27, 2015
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in HumansHanan Shamseldin, Anas M Alazami, Melanie Manning, et al.
Molecular Genetics and Metabolism|March 20, 2025
Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disordersAnthony C T Cheung, Erminia Di Pietro, Catherine Argyriou, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia casesKarine Choquet, Martine Tétreault, Sharon Yang, et al.
Journal of Medical Genetics|June 23, 2016
Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral headWayne Mah, Swapnil K Sonkusare, Tracy Wang, et al.
Journal of Medical Genetics|February 26, 2013
ARHGDIA: a novel gene implicated in nephrotic syndromeIndra Rani Gupta, Cindy Baldwin, David Auguste, et al.
American Journal of Human Genetics|January 8, 2013
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2Pierre Moffatt, Mouna Ben Amor, Francis H Glorieux, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genesBlanka Stibůrková, Jacek Majewski, Katerina Hodanová, et al.
Journal of Medical Genetics|April 8, 2014
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasiaAmanda C Smith, Alan J Mears, Ryan Bunker, et al.
The Journal of Experimental Medicine|November 19, 2014
CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammationJames M Kennedy, Nassima Fodil, Sabrina Torre, et al.
American Journal of Medical Genetics. Part A|April 23, 2015
Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACEJulie Richer, Hussein Daoud, Pavel Geier, et al.
Pageof 34