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Hasan Tawamie
List of publications:
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Lehrstuhl für Humangenetik
Publications
(7)
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Journal article
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Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia (2019)
Iqbal Z, Tawamie H, Ba W, Reis A, Halak BA, Sticht H, Uebe S, et al.
Journal article
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly (2017)
Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, et al.
Journal article
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss (2016)
Buchert R, Nesbitt AI, Tawamie H, Krantz ID, Medne L, Helbig I, Matalon DR, et al.
Journal article
Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability (2015)
Riecken LB, Tawamie H, Dornblut C, Buchert R, Ismayel A, Schulz A, Schumacher J, et al.
Journal article
Recurrent null mutation in SPG20 leads to Troyer syndrome (2015)
Tawamie H, Wohlleber E, Uebe S, Schmael C, Noethen MM, Abou Jamra R
Journal article
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy (2014)
Murakami Y, Tawamie H, Maeda Y, Büttner C, Buchert R, Radwan F, Sticht H, et al.
Journal article
A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency (2014)
Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, et al.
Journal article