Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles
Yıldız Bölükbaşı, Esra, Shabbir, Rana Muhammad Kamran, Malik, Sajid, Tolun, Aslıhan
Published in Journal of human genetics (01.02.2021)
Published in Journal of human genetics (01.02.2021)
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Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism
Zahra, Qandeel, Çakmak, Çağla, Koprulu, Mine, Shuaib, Muhammad, Sobreira, Nara, Kalsner, Louisa, Sobreira, Joselito, Guillen Sacoto, Maria J, Malik, Sajid, Tolun, Aslıhan
Published in Journal of human genetics (01.12.2020)
Published in Journal of human genetics (01.12.2020)
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LACC1 Gene Defects in Familial Form of Juvenile Arthritis
Karacan, Ilker, Uğurlu, Serdal, Şahin, Sezgin, Everest, Elif, Kasapçopur, Özgür, Tolun, Aslihan, Özdoğan, Huri, Turanli, Eda Tahir
Published in Journal of rheumatology (01.05.2018)
Published in Journal of rheumatology (01.05.2018)
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Control of ciliogenesis by FOR20, a novel centrosome and pericentriolar satellite protein
Sedjaï, Fatima, Acquaviva, Claire, Chevrier, Véronique, Chauvin, Jean-Paul, Coppin, Emilie, Aouane, Aicha, Coulier, François, Tolun, Aslihan, Pierres, Michel, Birnbaum, Daniel, Rosnet, Olivier
Published in Journal of cell science (15.07.2010)
Published in Journal of cell science (15.07.2010)
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Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay
Kim, Myungjin, Sandford, Erin, Gatica, Damian, Qiu, Yu, Liu, Xu, Zheng, Yumei, Schulman, Brenda A, Xu, Jishu, Semple, Ian, Ro, Seung-Hyun, Kim, Boyoung, Mavioglu, R Nehir, Tolun, Aslıhan, Jipa, Andras, Takats, Szabolcs, Karpati, Manuela, Li, Jun Z, Yapici, Zuhal, Juhasz, Gabor, Lee, Jun Hee, Klionsky, Daniel J, Burmeister, Margit
Published in eLife (26.01.2016)
Published in eLife (26.01.2016)
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Very‐late‐onset pyridoxine‐dependent seizures not linking to the known 5q31 locus
Kabakus, Nimet, Aydin, Mustafa, Ugur, Sibel A., Durukan, Mehtap, Tolun, Aslihan
Published in Pediatrics international (01.10.2008)
Published in Pediatrics international (01.10.2008)
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A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures
YILDINM, Yeşerin, ORHAN, Elif Kocasoy, ISERI, Sibel Aylin Ugur, SERDAROGLU-OFLAZER, Piraye, KARA, Bülent, SOLAKOGLU, Seyhun, TOLUN, Aslihan
Published in Human molecular genetics (15.05.2011)
Published in Human molecular genetics (15.05.2011)
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A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing
Karacan, İlker, Diz Küçükkaya, Reyhan, Karakuş, Fatma Nur, Solakoğlu, Seyhun, Tolun, Aslıhan, Hançer, Veysel Sabri, Turanlı, Eda Tahir
Published in Turkish journal of haematology (07.02.2019)
Published in Turkish journal of haematology (07.02.2019)
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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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Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias
Koprulu, Mine, Shabbir, Rana Muhammad Kamran, Mumtaz, Sara, Tolun, Aslıhan, Malik, Sajid
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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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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Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
Yıldırım, Yeşerin, Ouriachi, Toufik, Woehlbier, Ute, Ouahioune, Wahiba, Balkan, Mahmut, Malik, Sajid, Tolun, Aslıhan
Published in European journal of human genetics : EJHG (01.06.2018)
Published in European journal of human genetics : EJHG (01.06.2018)
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Mutations in SLC34A2 Cause Pulmonary Alveolar Microlithiasis and Are Possibly Associated with Testicular Microlithiasis
Corut, Ayse, Senyigit, Abdurrahman, Ugur, Sibel Aylin, Altin, Sedat, Ozcelik, Ugur, Calisir, Haluk, Yildirim, Zeki, Gocmen, Ayhan, Tolun, Aslihan
Published in American journal of human genetics (01.10.2006)
Published in American journal of human genetics (01.10.2006)
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Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice
Durmuş, Hacer, Ayhan, Özgecan, Çırak, Sebahattin, Deymeer, Feza, Parman, Yeşim, Franke, Andre, Eiber, Nane, Chevessier, Frederic, Schlötzer-Schrehardt, Ursula, Clemen, Christoph S, Hashemolhosseini, Said, Schröder, Rolf, Hemmrich-Stanisak, Georg, Tolun, Aslıhan, Serdaroğlu-Oflazer, Piraye
Published in Neurology (23.08.2016)
Published in Neurology (23.08.2016)
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