1.Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome

Sham, MH, Lui, VCH,     More...

Sham, MH, Lui, VCH, Chen, BLS, Fu, M, Tam, PKH     Less

JOURNAL OF MEDICAL GENETICS[0022-2593], Published 2001, Volume 38, Issue 9,

收錄情况： WOS SCOPUS

WOS核心合集引用: 42  2023影響因子:  3.6  发表年影響因子:  5.098 

2.Hirschsprung disease, associated syndromes and genetics: a review

Amiel, J, Sproat-Emi     More...

Amiel, J, Sproat-Emison, E, Garcia-Barcelo, M, Lantieri, F, Burzynski, G, Borrego, S, Pelet, A, Arnold, S, Miao, X, Griseri, P, Brooks, AS, Antinolo, G, de Pontual, L, Clement-Ziza, M, Munnich, A, Kashuk, C, West, K, Wong, KKY, Lyonnet, S, Chakravarti, A, Tam, PKH, Ceccherini, I, Hofstra, RMW, Fernandez, R     Less

JOURNAL OF MEDICAL GENETICS[0022-2593], Published 2008, Volume 45, Issue 1, Pages 1-14

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WOS核心合集引用: 645  2023影響因子:  3.6  发表年影響因子:  5.713 

3.HIRSCHSPRUNGS-DISEASE ASSOCIATED WITH A DELETION OF CHROMOSOME-10 (Q11.2Q21.2) - A FURTHER LINK WITH THE NEUROCRISTOPATHIES

FEWTRELL, MS, TAM, P     More...

FEWTRELL, MS, TAM, PKH, THOMSON, AH, FITCHETT, M, CURRIE, J, HUSON, SM, MULLIGAN, LM     Less

JOURNAL OF MEDICAL GENETICS[0022-2593], Published 1994, Volume 31, Issue 4, Pages 325-327

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WOS核心合集引用: 42  2023影響因子:  3.6 

4.LINKAGE ANALYSIS OF INFANTILE PYLORIC-STENOSIS AND MARKERS FROM CHROMOSOME 9Q11-Q33 - NO EVIDENCE FOR A MAJOR GENE IN THIS CANDIDATE REGION

CHUNG, E, COFFEY, R,     More...

CHUNG, E, COFFEY, R, PARKER, K, TAM, P, PEMBREY, ME, GARDINER, RM     Less

JOURNAL OF MEDICAL GENETICS[0022-2593], Published 1993, Volume 30, Issue 5, Pages 393-395

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WOS核心合集引用: 10  2023影響因子:  3.6