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American Journal of Human Genetics|May 11, 2010
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasiaElif Uz, Yasemin Alanay, Dilek Aktas, et al.
Molecular Genetics & Genomic Medicine|October 6, 2015
Mutations in CDK5RAP2 cause Seckel syndromeGökhan Yigit, Karen E Brown, Hülya Kayserili, et al.
Human Molecular Genetics|August 21, 2009
ALX4 dysfunction disrupts craniofacial and epidermal developmentHulya Kayserili, Elif Uz, Carien Niessen, et al.
Human Mutation|January 30, 2009
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeatsBoi-Dinh Chung, Hülya Kayserili, Minrong Ai, et al.
European Journal of Medical Genetics|August 17, 2021
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare diseaseKatharina Khuller, Gökhan Yigit, Carolina Martínez Grijalva, et al.
American Journal of Human Genetics|February 23, 2010
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing lossYun Li, Esther Pohl, Redouane Boulouiz, et al.
Frontiers in Cell and Developmental Biology|December 5, 2022
Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrumJulia Schmidt, Steffi Dreha-Kulaczewski, Maria-Patapia Zafeiriou, et al.
Journal of Medical Genetics|October 5, 2013
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotypeChristiane Zweier, Cornelia Kraus, Louise Brueton, et al.
American Journal of Human Genetics|March 1, 2011
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfectaJutta Becker, Oliver Semler, Christian Gilissen, et al.
Virus Research|June 6, 2021
The folate antagonist methotrexate diminishes replication of the coronavirus SARS-CoV-2 and enhances the antiviral efficacy of remdesivir in cell culture modelsKim M Stegmann, Antje Dickmanns, Sabrina Gerber, et al.
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