Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]

Hagit Baris; Bassem A. Bejjani; Wen Hann Tan; David L. Coulter; Judith A. Martin; Andrea L. Storm; Barbara K. Burton; Sulagna C. Saitta; Marzena Gajecka; Blake C. Ballif; Mira B. Irons; Lisa G. Shaffer; Virginia E. Kimonis

doi:10.1002/ajmg.a.31390

Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]

Hagit Baris, Bassem A. Bejjani, Wen Hann Tan, David L. Coulter, Judith A. Martin, Andrea L. Storm, Barbara K. Burton, Sulagna C. Saitta, Marzena Gajecka, Blake C. Ballif, Mira B. Irons, Lisa G. Shaffer, Virginia E. Kimonis^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Letter › peer-review

11 Scopus citations

Original language	English (US)
Pages (from-to)	1876-1879
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	140
Issue number	17
DOIs	https://doi.org/10.1002/ajmg.a.31390
State	Published - Sep 1 2006

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.31390

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Baris, H., Bejjani, B. A., Tan, W. H., Coulter, D. L., Martin, J. A., Storm, A. L., Burton, B. K., Saitta, S. C., Gajecka, M., Ballif, B. C., Irons, M. B., Shaffer, L. G., & Kimonis, V. E. (2006). Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]. American Journal of Medical Genetics, Part A, 140(17), 1876-1879. https://doi.org/10.1002/ajmg.a.31390

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title = "Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]",

author = "Hagit Baris and Bejjani, {Bassem A.} and Tan, {Wen Hann} and Coulter, {David L.} and Martin, {Judith A.} and Storm, {Andrea L.} and Burton, {Barbara K.} and Saitta, {Sulagna C.} and Marzena Gajecka and Ballif, {Blake C.} and Irons, {Mira B.} and Shaffer, {Lisa G.} and Kimonis, {Virginia E.}",

year = "2006",

month = sep,

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doi = "10.1002/ajmg.a.31390",

language = "English (US)",

volume = "140",

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journal = "American Journal of Medical Genetics, Part A",

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Baris, H, Bejjani, BA, Tan, WH, Coulter, DL, Martin, JA, Storm, AL, Burton, BK, Saitta, SC, Gajecka, M, Ballif, BC, Irons, MB, Shaffer, LG & Kimonis, VE 2006, 'Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]', American Journal of Medical Genetics, Part A, vol. 140, no. 17, pp. 1876-1879. https://doi.org/10.1002/ajmg.a.31390

TY - JOUR

T1 - Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]

AU - Baris, Hagit

AU - Bejjani, Bassem A.

AU - Tan, Wen Hann

AU - Coulter, David L.

AU - Martin, Judith A.

AU - Storm, Andrea L.

AU - Burton, Barbara K.

AU - Saitta, Sulagna C.

AU - Gajecka, Marzena

AU - Ballif, Blake C.

AU - Irons, Mira B.

AU - Shaffer, Lisa G.

AU - Kimonis, Virginia E.

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AN - SCOPUS:33748324532

SN - 1552-4825

VL - 140

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JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 17

ER -

Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]

ASJC Scopus subject areas

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