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International Journal of Dermatology|April 11, 2016
Papillon-Lefèvre syndrome: report of six patients and identification of a novel mutationBurak Tekin, Deniz Yucelten, Filippo Beleggia, et al.Human Molecular Genetics|May 5, 2017
New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsyAlexandra Pinggera, Luisa Mackenroth, Andreas Rump, et al.Elife|May 31, 2016
Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunitJulia Hatzold, Filippo Beleggia, Hannah Herzig, et al.American Journal of Medical Genetics. Part A|October 19, 2016
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicismShahida Moosa, Helena Böhrer-Rabel, Janine Altmüller, et al.American Journal of Medical Genetics. Part A|August 18, 2016
An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucityNina Bögershausen, Umut Altunoglu, Filippo Beleggia, et al.Developmental Dynamics : an Official Publication of the American Association of Anatomists|October 23, 2023
wnt10a is required for zebrafish median fin fold maintenance and adult unpaired fin metamorphosisErica L Benard, Ismail Küçükaylak, Julia Hatzold, et al.American Journal of Medical Genetics. Part A|December 8, 2015
A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutationGökhan Yigit, Dagmar Wieczorek, Nina Bögershausen, et al.Human Genetics|July 16, 2013
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndromeEsther Pohl, Ayca Aykut, Filippo Beleggia, et al.Human Molecular Genetics|April 4, 2015
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instabilityNadine Rosin, Nursel H Elcioglu, Filippo Beleggia, et al.American Journal of Medical Genetics. Part A|March 27, 2020
Human RAD50 deficiency: Confirmation of a distinctive phenotypeAviël Ragamin, Gökhan Yigit, Kristine Bousset, et al.Pageof 4