Suchergebnisse - "Caglayan, Ahmet"

PubPharm (5)

1

A novel homozygous frameshift mutation in the TUSC3 gene identified in siblings with intellectual disability

enthalten in: Clinical dysmorphology | 2022

von Özmansur, E. | Pedük, Y. | Gümüş, H. | +2

2

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly

enthalten in: American journal of human genetics | 2016

von Jerber, J. | Zaki, M. | Al-Aama, J. | +17

3

Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

enthalten in: American journal of human genetics | 2016

von Johansen, A. | Rosti, R. | Musaev, D. | +16

4

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency

enthalten in: Developmental medicine and child neurology | 2010

von Gümüş, H. | Ghesquiere, S. | Per, H. | +7

5

Genetic causes of syndromic and non-syndromic autism

enthalten in: Developmental medicine and child neurology | 2010

von Caglayan, A.

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