H. K. Eker

发表

Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability

J. Lupski, R. Gibbs, S. Jhangiani, 2022, HGG advances.

A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.

A. Crosby, H. K. Eker, Süleyman Ersin Unlü, 2014, European journal of medical genetics.

ESCOBAR SENDROMLU BİR OLGUDA KAŞ VE KİRPİK YOKLUĞU THE ABSENT EYEBROWS AND EYELASHES IN THE CASE WITH

Z. Aycan, S. Ceylaner, H. K. Eker, 2012 .

Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome.

Özgür Balasar, H. K. Eker, 2015, Clinical dysmorphology.

Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

A. Verloes, S. Drunat, S. Ünal, 2014, European journal of medical genetics.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

Clinical manifestations of 11 children with fronto-ocular syndrome (FOS): a case series

H. K. Eker, 2020, Child's Nervous System.

Contribution of genotypes in Prothrombin and Factor V Leiden to COVID‐19 and disease severity in patients at high risk for hereditary thrombophilia

H. Karabulut, D. Eker, S. Temel, 2023, Journal of medical virology.

45,X/47,XXX karyotype and five pregnancy: One fifth successful

H. K. Eker, 2015 .