Hatice Koçak Eker

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Publications

Citations

223

H-Index

Active since

2013

Affiliations

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo(Current)

Université Paris Cité

Universidade de São Paulo

Délégation Paris 7

Assistance Publique – Hôpitaux de Paris

Hatice Koçak Eker is an author at Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo specializing in neuropathology, medicine, and neurogenetics.

ORCID

Top concepts

MedicineNeuropathologyGeneticsNeurologyPathologyPediatricsNeurogeneticsRare DiseasesClinical Genetics

Publications per year

2013–2022

Publications

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

Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon et al. · European Journal of Human Genetics · 2014 · 171 citations · Full text

Neurological Disorder, Clinical Neurology, Baraitser–winter Cerebrofrontofacial Syndrome +3

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

Hatice Koçak Eker, Süleyman Ersin Ünlü, Fatema Al-Salmi et al. · European Journal of Medical Genetics · 2014 · 21 citations

Rare Diseases, Amyotrophic Lateral Sclerosis, Mendelian Disorder +11

Cerebro-fronto-facial syndrome type 3 with polymicrogyria: A clinical presentation of Baraitser–Winter syndrome

Hatice Koçak Eker, Betül Emine Derinkuyu, Sevim Ünal et al. · European Journal of Medical Genetics · 2013 · 16 citations

Clinical Presentation, Pathology, Baraitser–winter Syndrome +3

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

Ruizhi Duan, Hadia Hijazi, Elif Yılmaz Güleç et al. · Human Genetics and Genomics Advances · 2022 · 15 citations · Full text

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