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Human genome variation 13

Showing records 1 to 13 | Display all abstracts in Human genome variation

70834 Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation
Duran D
Human genome variation 2016; 3: 16042

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69968 A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent
Rauf B
Human genome variation 2016; 3: 16021

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70834 Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation
Jin SC
Human genome variation 2016; 3: 16042

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69968 A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent
Irum B; Kabir F
Human genome variation 2016; 3: 16021

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70834 Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation
DeSpenza T; Nelson-Williams C
Human genome variation 2016; 3: 16042

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69968 A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent
Firasat S; Naeem MA
Human genome variation 2016; 3: 16021

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70834 Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation
Cogal AG; Abrash EW
Human genome variation 2016; 3: 16042

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69968 A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent
Khan SN; Husnain T
Human genome variation 2016; 3: 16021

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70834 Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation
Harris PC
Human genome variation 2016; 3: 16042

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69968 A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent
Riazuddin S
Human genome variation 2016; 3: 16021

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70834 Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation
Lieske JC; Shimshak SJ
Human genome variation 2016; 3: 16042

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69968 A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent
Akram J; Riazuddin SA
Human genome variation 2016; 3: 16021

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70834 Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation
Mane S; Bilguvar K; DiLuna ML; Günel M; Lifton RP; Kahle KT
Human genome variation 2016; 3: 16042

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