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The Journal of Clinical Endocrinology and Metabolism|December 15, 2016
A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal DysgenesisPola Smirin-Yosef, Nehama Zuckerman-Levin, Shay Tzur, et al.
Human Genetics|July 16, 2011
An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood groupGuntram Borck, Naseebullah Kakar, Jochen Hoch, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|November 8, 2016
Diagnostic and prognostic significance of neurofilament light chain NF-L, but not progranulin and S100B, in the course of amyotrophic lateral sclerosis: Data from the German MND-netPetra Steinacker, André Huss, Benjamin Mayer, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|January 12, 2016
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegiaShakeela Daud, Naseebullah Kakar, Ingrid Goebel, et al.
Neurobiology of Aging|December 21, 2019
SQSTM1/p62 variants in 486 patients with familial ALS from Germany and SwedenRüstem Yilmaz, Kathrin Müller, David Brenner, et al.
The Journal of Clinical Endocrinology and Metabolism|August 5, 2004
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effectGuntram Borck, A Kemal Topaloglu, Eckhard Korsch, et al.
Human Genetics|May 1, 2014
Homozygous truncating PTPRF mutation causes atheliaGuntram Borck, Liat de Vries, Hsin-Jung Wu, et al.
Clinical Genetics|February 20, 2024
Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasiasNaseebullah Kakar, Fazal Ur Rehman, Ramandeep Kaur, et al.
American Journal of Human Genetics|May 31, 2011
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short statureRami Abou Jamra, Orianne Philippe, Annick Raas-Rothschild, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type GrebeLuitgard M Graul-Neumann, Alexandra Deichsel, Ulrike Wille, et al.
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