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Nucleus (Austin, Tex.)|February 18, 2011
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane proteinPeter Clayton, Björn Fischer, Anuska Mann, et al.American Journal of Medical Genetics. Part A|August 31, 2010
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new casesSahar Mansour, Fiona Connell, Colin Steward, et al.European Journal of Human Genetics : EJHG|March 23, 2017
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disordersAlistair T Pagnamenta, Yoshiko Murakami, John M Taylor, et al.Journal of Medical Genetics|December 17, 2021
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and wartsSahar Mansour, Katherine S Josephs, Pia Ostergaard, et al.Nature Communications|April 28, 2019
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalisElisavet Fotiou, Silvia Martin-Almedina, Michael A Simpson, et al.American Journal of Human Genetics|November 19, 2013
Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizuresEmma L Baple, Reza Maroofian, Barry A Chioza, et al.Brain : a Journal of Neurology|September 8, 2010
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple familiesHelen A L Tuppen, Vanessa E Hogan, Langping He, et al.Human Molecular Genetics|April 27, 2024
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of functionMurat Alpaslan, Elodie Fastré, Sandrine Mestre, et al.European Journal of Human Genetics : EJHG|March 4, 2011
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesisRob Hastings, Jan-Maarten Cobben, Gabriele Gillessen-Kaesbach, et al.Journal of Medical Genetics|November 7, 2015
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndromeAnnmarie Hempel, Alistair T Pagnamenta, Moira Blyth, et al.Pageof 16