about
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationBiallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionALX4 dysfunction disrupts craniofacial and epidermal developmentMutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathiesCEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disordersExome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersHaploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish familyMutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsyExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementTCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
P50
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P50
description
hulumtuese
@sq
onderzoeker
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researcher
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հետազոտող
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name
Hulya Kayserili
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Hulya Kayserili
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Hulya Kayserili
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Hulya Kayserili
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Hulya Kayserili
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type
label
Hulya Kayserili
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Hulya Kayserili
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Hulya Kayserili
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Hulya Kayserili
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Hulya Kayserili
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Hulya Kayserili
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Hulya Kayserili
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Hulya Kayserili
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Hulya Kayserili
@nl
Hulya Kayserili
@sl