Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation von Ugur, Sibel Aylin, Tolun, Aslihan

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Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles von Yıldız Bölükbaşı, Esra, Shabbir, Rana Muhammad Kamran, Malik, Sajid, Tolun, Aslıhan

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Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism von Zahra, Qandeel, Çakmak, Çağla, Koprulu, Mine, Shuaib, Muhammad, Sobreira, Nara, Kalsner, Louisa, Sobreira, Joselito, Guillen Sacoto, Maria J, Malik, Sajid, Tolun, Aslıhan

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Control of ciliogenesis by FOR20, a novel centrosome and pericentriolar satellite protein von Sedjaï, Fatima, Acquaviva, Claire, Chevrier, Véronique, Chauvin, Jean-Paul, Coppin, Emilie, Aouane, Aicha, Coulier, François, Tolun, Aslihan, Pierres, Michel, Birnbaum, Daniel, Rosnet, Olivier

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Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay von 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

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A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family von Naqvi, Syeda Farwa, Shabbir, Rana Muhammad Kamran, Tolun, Aslıhan, Basit, Sulman, Malik, Sajid

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Very‐late‐onset pyridoxine‐dependent seizures not linking to the known 5q31 locus von Kabakus, Nimet, Aydin, Mustafa, Ugur, Sibel A., Durukan, Mehtap, Tolun, Aslihan

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KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies von Koprulu, Mine, Naeem, Muhammad, Nalbant, Gökhan, Shabbir, Rana M Kamran, Mahmood, Tariq, Huma, Zele, Malik, Sajid, Tolun, Aslıhan

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Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias von Koprulu, Mine, Shabbir, Rana Muhammad Kamran, Mumtaz, Sara, Tolun, Aslıhan, Malik, Sajid

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A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures von YILDINM, Yeşerin, ORHAN, Elif Kocasoy, ISERI, Sibel Aylin Ugur, SERDAROGLU-OFLAZER, Piraye, KARA, Bülent, SOLAKOGLU, Seyhun, TOLUN, Aslihan

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Homozygous deletion ofMYADML2in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles von Yildiz Bolukbasi, Esra, Shabbir, Rana Muhammad Kamran, Malik, Sajid, Tolun, Aslihan

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Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility von Yıldırım, Yeşerin, Ouriachi, Toufik, Woehlbier, Ute, Ouahioune, Wahiba, Balkan, Mahmut, Malik, Sajid, Tolun, Aslıhan

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Novel Recessive Cone-Rod Dystrophy Caused by POC1B Mutation von Durlu, Yusuf K, Köroglu, Çigdem, Tolun, Aslihan

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A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing von Karacan, İlker, Diz Küçükkaya, Reyhan, Karakuş, Fatma Nur, Solakoğlu, Seyhun, Tolun, Aslıhan, Hançer, Veysel Sabri, Turanlı, Eda Tahir

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TBC1D24 truncating mutation resulting in severe neurodegeneration von Guven, Ayse, Tolun, Aslıhan

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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 Manif... von Naqvi, Syeda Farwa, Yıldız-Bölükbaşı, Esra, Afzal, Muhammad, Nalbant, Gökhan, Mumtaz, Sara, Tolun, Aslıhan, Malik, Sajid

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BiallelicZNF407mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism von Zahra, Qandeel, Cakmak, Cagla, Koprulu, Mine, Shuaib, Muhammad, Sobreira, Nara, Kalsner, Louisa, Sobreira, Joselito, Sacoto, Maria J. Guillen, Malik, Sajid, Tolun, Aslihan

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Mutations in SLC34A2 Cause Pulmonary Alveolar Microlithiasis and Are Possibly Associated with Testicular Microlithiasis von Corut, Ayse, Senyigit, Abdurrahman, Ugur, Sibel Aylin, Altin, Sedat, Ozcelik, Ugur, Calisir, Haluk, Yildirim, Zeki, Gocmen, Ayhan, Tolun, Aslihan

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Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice von Durmuş, Hacer, Ayhan, Özgecan, Çrak, 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, Aslhan, Serdaroğlu-Oflazer, Piraye

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A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family von Yıldırım, Yeşerin, Kerem, Metin, Köroğlu, Çiğdem, Tolun, Aslıhan

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