Arama Sonuçları - "mutation"

The Impact of Mutations in Wolframin on Psychiatric Disorders Yazar: Saira Munshani, Eiman Y. Ibrahim, Eiman Y. Ibrahim, Ilaria Domenicano, Barbara E. Ehrlich

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Pyridoxine Responsiveness and PNPO Gene Mutations Yazar: J Gordon Millichap, John J Millichap

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Glial Protein Mutations in Alexander Disease Yazar: J Gordon Millichap

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Pediatric Cystinuria Patient With Novel Mutation in Yazar: Yoshitaka Watanabe MD, PhD, Yoshifusa Abe MD, PhD, Shinichi Sakamoto MD, PhD, Eiji Morimoto, Yuko Taki MD, PhD, Satoshi Hibino MD, PhD, Takashi Fukagai MD, PhD, Shuichiro Watanabe MD, PhD

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Twinkle Mutations and Refractory Status Epilepticus Yazar: J Gordon Millichap

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BRAF Mutation Heterogeneity in Melanoma Lesions Yazar: Kaori Sakaizawa, Atsuko Ashida, Yukiko Kiniwa, Ryuhei Okuyama

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Mutation of the genetic content of Proteus mirabilis Yazar: Diana Mostafa

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Novel Mutation in Causing Ohtahara Syndrome Yazar: Da Hye Yoon, Ja Un Moon, Joo Young Lee, In Goo Lee

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The role of noncoding mutations in blood cancers Yazar: Sunniyat Rahman, Marc R. Mansour

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Mitochondrial DNA Mutation in Rett Syndrome Yazar: J Gordon Millichap

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New mutations associated with Hirschsprung disease Yazar: Marta Lorente-Ros, Ane Miren Andrés, Alba Sánchez-Galán, Cinthia Amiñoso, Sixto García, Pablo Lapunzina, Jesús Solera-García

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Congenital Myasthenic Syndrome with Agrin Mutations Yazar: J Gordon Millichap, John J Millichap

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Correction: Somatic mutations in cancer development Yazar: Luzzatto Lucio

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Febrile Episodic Ataxia with Novel Mutation Yazar: J Gordon Millichap

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Folliculin mutations are not associated with severe COPD Yazar: Litonjua Augusto A, Klanderman Barbara J, Cho Michael H, Sparrow David, Silverman Edwin K, Raby Benjamin A

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Mutational analysis of SMN gene in patients with spinal muscular atrophy and the correlation between mutation and the severity of clinical manifestations Yazar: Almagul Nagimtaeeva, Dina Zhanataeva, Bakytgul Kamalieva, Gulshara Abildinova

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Double Hit in Clear-Cell Renal Cell Carcinoma With Germline Pathogenic ATM Mutation and Somatic VHL Mutation Yazar: Kok Hoe Chan MD, Nicolas Duque Clavijo MD, Gustavo Ayala MD, Ryan Hall MD, Curtis Wray MD, Putao Cen MD

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Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma Yazar: Wong Nora, Ferrando Barbara, Pasini Barbara, Menko Fred H, Oomen Peter HN, Jansen Jeroen C, Weiss Marjan M, van Minderhout Ivonne, Bayley Jean-Pierre, Alpert Lesley C, Williams Rosie, Blair Edward, Devilee Peter, Taschner Peter EM

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Congenital Short-Bowel Syndrome Is Associated With a Novel Deletion Mutation in the CLMP Gene: Mutations in CLMP Caused CSBS Yazar: Fen-fen Ou, Fen-fen Ou, Ming-jie Li, Li-bin Mei, Xin-Zhu Lin, Xin-Zhu Lin, Yan-an Wu

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K-Ras and β-catenin mutations cooperate with Fgfr3 mutations in mice to promote tumorigenesis in the skin and lung, but not in the bladder Yazar: Imran Ahmad, Lukram Babloo Singh, Mona Foth, Carol-Ann Morris, Makoto Mark Taketo, Xue-Ru Wu, Hing Y. Leung, Owen J. Sansom, Tomoko Iwata

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