Rare heterozygous genetic variants of NRXN and NLGN gene families involved in synaptic function and their association with neurodevelopmental disorders von Gerik‐Celebi, Hamide Betul, Bolat, Hilmi, Unsel‐Bolat, Gul

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A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy von Ayça, Senem, Gerik Çelebi, Hamide Betül, Çam, Sırrı, Polat, Muzaffer

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Utility of Optical Genome Mapping in Repeat Disorders von Mutlu, Mehmet Burak, Karakaya, Taner, Çelebi, Hamide Betül Gerik, Duymuş, Fahrettin, Seyhan, Serhat, Yılmaz, Sanem, Yiş, Uluç, Atik, Tahir, Yetkin, Mehmet Fatih, Gümüş, Hakan

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Molecular analyses of ADAMTS-1, -4, -5, and IL-17 a cytokine relationship in patients with ulcerative colitis von Buran, Tahir, Batır, Muhammet Burak, Çam, Fethi Sırrı, Kasap, Elmas, Çöllü, Fatih, Çelebi, Hamide Betül Gerik, Şahin, Mustafa

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Neutropenic Fever in a Two-and-a-Half Month Old Girl: Severe Congenital Neutropenia von Gulen, Huseyin, Ocalan, Merve, Yildirim, Aysen Turedi, Cam, F. Sirri, Celebi, Hamide Betul Gerik

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Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience von Gerik‐Celebi, Hamide Betul, Dokurel Çetin, İpek, Bolat, Hilmi, Unsel‐Bolat, Gul

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Investigation of Genetic Changes in Three Families with Bipolar Disease von Çolak-Geniş, Esra, Özdemir Erdoğan, Müjdan, Çam, Fethi Sırrı, Aydemir, Ömer, Akin, Funda, Gerik-Celebi, Hamide Betül, Solak, Mustafa

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Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family von Gun Bilgic, Dilek, Gerik Celebi, Hamide Betul, Aydin Gumus, Aydeniz, Bilgic, Abdulkadir, Yazici, Havva, Ceylaner, Serdar, Yilmaz, Celil, Polat, Muzaffer, Akbal Sahin, Melike, Dereli, Fatma, Cam, Fethi Sirri

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A new clinical entity in T704M mutation in periodic paralysis von Gun Bilgic, Dilek, Aydin Gumus, Aydeniz, Gerik Celebi, Hamide Betul, Bilgic, Abdulkadir, Unaltuna Erginel, Nihan, Cam, Fethi Sirri

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A novel CACNA1A mutation in a neonate with severe encephalopathy at birth von Ozdil, Mine, Eroglu, Arzu, Gerik-Celebi, Hamide Betul

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Carrier Rates of Phenylketonuria, Biotinidase Deficiency and Cystic Fibrosis in Turkey

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Association of ABCA13 Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders von Gerik-Celebi, Hamide Betul, Unsel-Bolat, Gul, Bolat, Hilmi

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The Role of Next Generation Sequencing in Diagnosis of Patients with Rare Syndromic Short Stature

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Clinical and Genetic Characteristics of Patients with Unexplained Intellectual Disability/Developmental Delay without Epilepsy von Gerik-Celebi, Hamide Betul, Aydin, Hilal, Bolat, Hilmi, Unsel-Bolat, Gul

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A Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus von Ayça, Senem, Gerik Çelebi, Hamide Betül, Çam, Sırrı, Polat, Muzaffer

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CLINICAL AND GENETIC CHARACTERISTICS OF PATIENTS WITH UNEXPLAINED NEURODEVELOPMENTAL DISORDERS WITHOUT EPILEPSY von Çelebi, Hamide Betül Gerik, Aydın, Hilal, Bolat, Hilmi, Ünsel-Bolat, Gül

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Van Der Knaap disease; A case having a defined mutation and novel mutation von Gerik Çelebi, Hamide Betül

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A novel CACNA1A mutation in a neonate with severe encephalopathy at birth von Ozdil, Mine, Eroglu, Arzu, Gerik-Celebi, Hamide Betul

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A novel de nova missense LMNA mutation in a Turkish patient with laminopathies von Gerik Çelebi, Hamide Betül, Ayça, Senem, Polat, Muzaffer, Çam, Sırrı

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A novel frameshift mutation in two siblings with merosin-deficient congenital muscular dystrophy von Ayça, Senem, Gerik Çelebi, Hamide Betül, Polat, Muzaffer, Çam, Sırrı

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