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American Journal of Medical Genetics. Part A|October 13, 2021
Genomic basis of syndromic short stature in an Algerian patient cohortShahida Moosa, Farida Chentli, Janine Altmüller, et al.International Journal of Molecular Sciences|March 28, 2024
3D Super-Resolution Nuclear Q-FISH Imaging Reveals Cell-Cycle-Related Telomere ChangesTatiana V Pochechueva, Niko Schwenzer, Tobias Kohl, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 3, 2013
A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onsetHeike Hoyer-Kuhn, Oliver Semler, Lutz Garbes, 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.Ophthalmic Genetics|March 23, 2002
Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish familySerap Ozden, Füsun Düzcan, Bernd Wollnik, et al.Molecular Genetics & Genomic Medicine|September 26, 2017
Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndromeShahida Moosa, Janine Altmüller, Troels Lyngbye, 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.Molecular Vision|October 26, 2007
Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719CRedouane Boulouiz, Yun Li, Omar Abidi, et al.Molecular and Cellular Biology|August 8, 2007
Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathwayImad Shams, Edyta Rohmann, Veraragavan P Eswarakumar, 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.Pageof 17