Beyhan Tüysüz

Akademik Profiller

1. 1
   Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathyBrain : a journal of neurology
   2020
2. 2
   Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/betaHuman Mutation
   2020
3. 3
   Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4European Journal of Medical Genetics
   2020
4. 4
   Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal ParentsMolecular Syndromology
   2020
5. 5
   A novel mutation of KIF11 in a child with 22q11.2 deletion syndrome associated with MCLMRMolecular Syndromology
   2019
6. 6
   Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotypeGene
   2019
7. 7
   Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause MicrocephalyDevelopmental Cell
   2019
8. 8
   SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancyJournal of Human Genetics
   2019
9. 9
   The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic InheritanceAmerican Journal of Human Genetics
   2019
10. 10
    The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutationsHuman Mutation
    2019

Yayın listesi ORCID kaydından alındı.