共 5 条
[1]
Design and Validation of a Metabolic Disorder Resequencing Microarray (BRUM1)
[J].
Bruce, Christopher K.
;
Smith, Matthew
;
Rahman, Fatima
;
Liu, Zhi-feng
;
McMullan, Dominic J.
;
Ball, Sarah
;
Hartley, Jane
;
Kroos, Marian A.
;
Heptinstall, Lesley
;
Reuser, Arnold J. J.
;
Rolfs, Arndt
;
Hendriksz, Chris
;
Kelly, Deirdre A.
;
Barrett, Timothy G.
;
MacDonald, Fiona
;
Maher, Eamonn R.
;
Gissen, Paul
.
HUMAN MUTATION,
2010, 31 (07)
:858-865

Bruce, Christopher K.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England

Smith, Matthew
论文数: 0 引用数: 0
h-index: 0
机构:
Birmingham Womens Hosp, W Midlands Reg Genet Serv, Birmingham, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England

Rahman, Fatima
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England

Liu, Zhi-feng
论文数: 0 引用数: 0
h-index: 0
机构:
Nanjing Med Univ, Dept Digestory, Nanjing Childrens Hosp, Nanjing, Peoples R China Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England

McMullan, Dominic J.
论文数: 0 引用数: 0
h-index: 0
机构:
Birmingham Womens Hosp, W Midlands Reg Genet Serv, Birmingham, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England

Ball, Sarah
论文数: 0 引用数: 0
h-index: 0
机构:
Birmingham Childrens Hosp, Dept Clin Chem, Birmingham, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England

Hartley, Jane
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England
Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England

Kroos, Marian A.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England

Heptinstall, Lesley
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Manchester Childrens Hosp, Manchester M27 1HA, Lancs, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England

Reuser, Arnold J. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England

论文数: 引用数:
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机构:

Hendriksz, Chris
论文数: 0 引用数: 0
h-index: 0
机构:
Birmingham Childrens Hosp, Metab Unit, Birmingham, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England

Kelly, Deirdre A.
论文数: 0 引用数: 0
h-index: 0
机构:
Birmingham Childrens Hosp, Liver Unit, Birmingham, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England

论文数: 引用数:
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机构:

MacDonald, Fiona
论文数: 0 引用数: 0
h-index: 0
机构:
Birmingham Womens Hosp, W Midlands Reg Genet Serv, Birmingham, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England

Maher, Eamonn R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England
Birmingham Womens Hosp, W Midlands Reg Genet Serv, Birmingham, W Midlands, England Univ Birmingham, Sch Clin & Expt Med, Birmingham B15 2TG, W Midlands, England

论文数: 引用数:
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[2]
Prognosis of alpha-1-antitrypsin deficiency-related liver disease in the era of paediatric liver transplantation
[J].
Francavilla, R
;
Castellaneta, SP
;
Hadzic, N
;
Chambers, SM
;
Portmann, B
;
Tung, J
;
Cheeseman, P
;
Rela, M
;
Heaton, ND
;
Mieli-Vergani, G
.
JOURNAL OF HEPATOLOGY,
2000, 32 (06)
:986-992

Francavilla, R
论文数: 0 引用数: 0
h-index: 0
机构: Kings Coll Hosp London, Dept Child Hlth, London SE5 9RJ, England

Castellaneta, SP
论文数: 0 引用数: 0
h-index: 0
机构: Kings Coll Hosp London, Dept Child Hlth, London SE5 9RJ, England

Hadzic, N
论文数: 0 引用数: 0
h-index: 0
机构: Kings Coll Hosp London, Dept Child Hlth, London SE5 9RJ, England

Chambers, SM
论文数: 0 引用数: 0
h-index: 0
机构: Kings Coll Hosp London, Dept Child Hlth, London SE5 9RJ, England

Portmann, B
论文数: 0 引用数: 0
h-index: 0
机构: Kings Coll Hosp London, Dept Child Hlth, London SE5 9RJ, England

Tung, J
论文数: 0 引用数: 0
h-index: 0
机构: Kings Coll Hosp London, Dept Child Hlth, London SE5 9RJ, England

Cheeseman, P
论文数: 0 引用数: 0
h-index: 0
机构: Kings Coll Hosp London, Dept Child Hlth, London SE5 9RJ, England

Rela, M
论文数: 0 引用数: 0
h-index: 0
机构: Kings Coll Hosp London, Dept Child Hlth, London SE5 9RJ, England

Heaton, ND
论文数: 0 引用数: 0
h-index: 0
机构: Kings Coll Hosp London, Dept Child Hlth, London SE5 9RJ, England

Mieli-Vergani, G
论文数: 0 引用数: 0
h-index: 0
机构: Kings Coll Hosp London, Dept Child Hlth, London SE5 9RJ, England
[3]
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
[J].
Gissen, P
;
Johnson, CA
;
Morgan, NV
;
Stapelbroek, JM
;
Forshew, T
;
Cooper, WN
;
McKiernan, PJ
;
Klomp, LWJ
;
Morris, AAM
;
Wraith, JE
;
McClean, P
;
Lynch, SA
;
Thompson, RJ
;
Lo, B
;
Quarrell, OW
;
Di Rocco, M
;
Trembath, RC
;
Mandel, H
;
Wali, S
;
Karet, FE
;
Knisely, AS
;
Houwen, RHJ
;
Kelly, DA
;
Maher, ER
.
NATURE GENETICS,
2004, 36 (04)
:400-404

Gissen, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Johnson, CA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Morgan, NV
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Stapelbroek, JM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Forshew, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Cooper, WN
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

McKiernan, PJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Klomp, LWJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Morris, AAM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Wraith, JE
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

McClean, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Lynch, SA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Thompson, RJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Lo, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Quarrell, OW
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Di Rocco, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Trembath, RC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Mandel, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Wali, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Karet, FE
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Knisely, AS
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Houwen, RHJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Kelly, DA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

论文数: 引用数:
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机构:
[4]
Characterization of mutations in ATP8B1 associated with hereditary cholestasis
[J].
Klomp, LWJ
;
Vargas, JC
;
van Mil, SWC
;
Pawlikowska, L
;
Strautnieks, SS
;
van Eijk, MJT
;
Juijn, JJ
;
Pabón-Peña, C
;
Smith, LB
;
DeYoung, JA
;
Byrne, JA
;
Gombert, J
;
van der Brugge, G
;
Berger, R
;
Jankowska, I
;
Pawlowska, J
;
Villa, E
;
Knisely, AS
;
Thompson, RJ
;
Freimer, NB
;
Houwen, RHJ
;
Bull, LN
.
HEPATOLOGY,
2004, 40 (01)
:27-38

Klomp, LWJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Vargas, JC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

van Mil, SWC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Pawlikowska, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Strautnieks, SS
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

van Eijk, MJT
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Juijn, JJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Pabón-Peña, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Smith, LB
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

DeYoung, JA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Byrne, JA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Gombert, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

van der Brugge, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Berger, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Jankowska, I
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Pawlowska, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Villa, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Knisely, AS
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Thompson, RJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Freimer, NB
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Houwen, RHJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA

Bull, LN
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Francisco, San Francisco Gen Hosp, Liver Ctr Lab, San Francisco, CA 94110 USA
[5]
ROBERTS EA, 2008, DIS LIVER BILIARY SY, P57
