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Search Results - Çavdartepe, Büşra Eser
Search Results - Çavdartepe, Büşra Eser
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Assessment of Pathogenic Variants in the PAH Gene and Genotype–Phenotype Correlation in Phenylketonuria Patients from Turkey
by
Balasar, Özgür
,
Kadıoğlu Yılmaz, Banu
,
Başdemirci, Müşerref
,
Koçak Eker, Hatice
,
Eser Çavdartepe, Büşra
,
Şimşek, Levent
,
Tunçez, Ebru
,
Duymuş, Fahrettin
Published in
Biochemical genetics
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Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the WNT1 Gene and Review of the Literature
by
Çavdartepe, Büşra Eser
,
İpek, Rojan
Published in
Molecular syndromology
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Partial Trisomy 15q and Partial Monosomy 17q in a Boy with Various Dysmorphic Findings
by
Eser Çavdartepe, Büşra
,
Koçak, Nadir
,
Çora, Tülin
Published in
Majallah-ʼi bīmārīhā-yi kūdakān-i Īrān = Iranian journal of pediatrics
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X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey
by
Öztürk, Özden
,
Çavdartepe, Büşra Eser
,
Bağış, Haydar
Published in
Molecular syndromology
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Treacher Collins Syndrome with a Novel Deletion in the TCOF1 Gene
by
Büşra Eser Çavdartepe
,
Koçak, Nadir
,
Yaşa, Nafiz
,
Çora, Tülin
Published in
Journal of Clinical Practice & Research
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Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene
by
İpek, Rojan
,
Çavdartepe, Büşra Eser
,
Kor, Deniz
,
Okuyaz, Çetin
Published in
Metabolic brain disease
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Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the WNT1 Gene and Review of the Literature
by
Çavdartepe, Büşra Eser
,
İpek, Rojan
Published in
Molecular syndromology
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X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey
by
Öztürk, Özden
,
Çavdartepe, Büşra Eser
,
Bağış, Haydar
Published in
Molecular syndromology
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