A. Aslanger

发表

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome

S. Nelson, H. Kayserili, J. Gleeson, 2017, Journal of Medical Genetics.

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Dillon Y. Chen, J. Gleeson, H. Houlden, 2020, Nature Communications.

Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2

H. Kayserili, U. Altunoğlu, E. Aslanger, 2014, American journal of medical genetics. Part A.

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

G. Gyapay, A. Smahi, C. Bodemer, 2017, Nature Medicine.

Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature

G. Yeşil, A. Iscan, S. Guler, 2020, Neuropediatrics.

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

P. Scambler, R. Hennekam, J. Clayton-Smith, 2010, American journal of human genetics.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

A Rare Cause of Adrenal Insufficiency – Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature

S. Poyrazoglu, F. Baş, F. Darendeliler, 2020, Hormone Research in Paediatrics.

An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant

B. Tüysüz, A. Caglayan, M. Vural, 2023, American journal of medical genetics. Part A.

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

H. Kayserili, H. Koseki, S. Ikegawa, 2009, Journal of Medical Genetics.

Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability

G. Yeşil, A. Aslanger, Beyza Goncu, 2022, Journal of Human Genetics.

Proteomic Analysis of m.8296A>G Variation in the Mitochondrial tRNALys Gene

B. Kara, G. Akpinar, M. Kasap, 2022, Molecular Syndromology.

Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability

G. Yeşil, A. Aslanger, Beyza Goncu, 2022, Journal of human genetics.

Functional Characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy.

G. Yeşil, E. Akyuz, A. Aslanger, 2021, The International journal of neuroscience.

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases

G. Toksoy, A. Gedikbaşı, B. Karaman, 2023, Frontiers in Genetics.

A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia

N. Elçioglu, G. Yeşil, A. Aslanger, 2021, Journal of clinical research in pediatric endocrinology.

A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)

G. Yeşil, E. Ateş, Ceren Alavanda, 2023, Molecular Syndromology.

A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy

S. Poyrazoglu, F. Baş, F. Darendeliler, 2023, Hormone Research in Paediatrics.