Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.

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Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.GLI3-related polydactyly: a review.Disturbed chromosome segregation and multipolar spindle formation in a patient with CHAMP1 mutation.Congenital Hypothalamic "Hamartoblastoma" Versus "Hamartoma".

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Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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Somatic mutations in GLI3 and ...... cause hypothalamic hamartoma.

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Somatic mutations in GLI3 and ...... cause hypothalamic hamartoma.

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Somatic mutations in GLI3 and ...... cause hypothalamic hamartoma.

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Somatic mutations in GLI3 and ...... cause hypothalamic hamartoma.

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Hiroshi Masuda

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Hiroshi Shirozu

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Jun Tohyama

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Mitsuko Nakashima

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Naomichi Matsumoto

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Noriko Miyake

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Satoko Miyatake

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Shigeki Kameyama

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Takefumi Higashijima

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Takeshi Mizuguchi

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GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization

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OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

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Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1

Somatic mosaicism: implications for disease and transmission genetics

Efficient selection for high-expression transfectants with a novel eukaryotic vector

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10.1002/ACN3.300

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Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.

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P2860

P2860

Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.

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