KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
Koprulu, Mine, Naeem, Muhammad, Nalbant, Gökhan, Shabbir, Rana M Kamran, Mahmood, Tariq, Huma, Zele, Malik, Sajid, Tolun, Aslıhan
Published in European journal of human genetics : EJHG (01.11.2022)
Published in European journal of human genetics : EJHG (01.11.2022)
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A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family
Shabbir, Rana Muhammad Kamran, Nalbant, Gökhan, Zaman, Qamar, Tolun, Aslıhan, Malik, Sajid, Mumtaz, Sara
Published in The Yale journal of biology & medicine (01.09.2023)
Published in The Yale journal of biology & medicine (01.09.2023)
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CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies
Koprulu, Mine, Shabbir, Rana Muhammad Kamran, Zaman, Qamar, Nalbant, Gökhan, Malik, Sajid, Tolun, Aslıhan
Published in European journal of medical genetics (01.04.2021)
Published in European journal of medical genetics (01.04.2021)
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Novel EDAR mutation in tooth agenesis and variable associated features
Mumtaz, Sara, Nalbant, Gökhan, Yıldız Bölükbaşı, Esra, Huma, Zele, Ahmad, Nafees, Tolun, Aslıhan, Malik, Sajid
Published in European journal of medical genetics (01.09.2020)
Published in European journal of medical genetics (01.09.2020)
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Evaluating the campus climate factors using an interval type-2 fuzzy ANP
Nalbant,Kemal Gökhan, Özdemir,Şahika, Özdemir,Yavuz
Published in Sigma (Istanbul, Turkey) (01.02.2024)
Published in Sigma (Istanbul, Turkey) (01.02.2024)
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Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma
Naqvi, Syeda Farwa, Yıldız-Bölükbaşı, Esra, Afzal, Muhammad, Nalbant, Gökhan, Mumtaz, Sara, Tolun, Aslıhan, Malik, Sajid
Published in The Yale journal of biology & medicine (29.09.2023)
Published in The Yale journal of biology & medicine (29.09.2023)
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