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1 . Academic Journal
Transcriptomic Cross‐Species Analysis of Chronic Liver Disease Reveals Consistent Regulation Between Humans and Mice
저자
by
Christian H. Holland
;
Ricardo O. Ramirez Flores
;
Maiju Myllys
;
Reham Hassan
;
Karolina Edlund
, et al.
소스
Hepatology Communications, Vol 6, Iss 1, Pp 161-177 (2022)
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7 . Academic Journal
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study
저자
by
Alison M. Elliott
;
Shelin Adam
;
Christèle du Souich
;
Anna Lehman
;
Tanya N. Nelson
, et al.
소스
HGG Advances, Vol 3, Iss 3, Pp 100108- (2022)
Full Text (ScienceDirect)
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7 . Academic Journal
Familial impairment of vocal cord mobility in childhood with clubfoot
저자
by
Shaw, Rebecca
;
Dias, Cristina
;
Ludemann, Jeffrey
;
Rupps, Rosemarie
;
Tsai, Vance
, et al.
소스
Clinical Dysmorphology
. Jun 14, 2018
Full Text (LWW)
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7 . Academic Journal
FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability?
저자
by
Myers, Angela
;
du Souich, Christèle
;
Yang, Connie L.
;
Borovik, Lior
;
Mwenifumbo, Jill
, et al.
소스
American Journal of Medical Genetics Part A
. Dec 01, 2017 173(12):3172-3181
Web of Science
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7 . Academic Journal
Characteristics of primary biliary cirrhosis in British Columbia's First Nations population
저자
by
Laura Arbour
;
Rosemarie Rupps
;
Leigh Field
;
Paul Ross
;
Anders Erikson
, et al.
소스
Canadian Journal of Gastroenterology, Vol 19, Iss 5, Pp 305-310 (2005)
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7 . Academic Journal
A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature†
저자
by
Brown, Lindsay A.
;
Rupps, Rosemarie
;
Peñaherrera, Maria S.
;
Robinson, Wendy P.
;
Patel, Millan S.
, et al.
소스
American Journal Of Medical Genetics - A
. Jun 01, 2014 164(6):1587-1594
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7 . Academic Journal
Life-History Chronicle for a Patient With the Recently Described Chromosome 4q21 Microdeletion Syndrome
저자
by
Tsang, Erica
;
Rupps, Rosemarie
;
McGillivray, Barbara
;
Eydoux, Patrice
;
Marra, Marco
, et al.
소스
American Journal Of Medical Genetics - A
. Oct 01, 2012 158A(10):2606-2609
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7 . Academic Journal
Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization
저자
by
DeScipio, Cheryl
;
Conlin, Laura
;
Rosenfeld, Jill
;
Tepperberg, James
;
Pasion, Romela
, et al.
소스
American Journal Of Medical Genetics - A
. Sep 01, 2012 158A(9):2152-2161
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7 . Academic Journal
Beckwith–Wiedemann Syndrome in Sibs Discordant for IC2 Methylation
저자
by
Niederhoffer, Karen Y.
;
Peñaherrera, Maria
;
Pugash, Denise
;
Rupps, Rosemarie
;
Arbour, Laura
, et al.
소스
American Journal Of Medical Genetics - A
. Jul 01, 2012 158A(7):1662-1669
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7 . Academic Journal
An Analysis of Exome Sequencing for Diagnostic Testing of the Genes Associated with Muscle Disease and Spastic Paraplegia
저자
by
Dias, Cristina
;
Sincan, Murat
;
Cherukuri, Praveen F.
;
Rupps, Rosemarie
;
Huang, Yan
, et al.
소스
Human Mutation
. Apr 01, 2012 33(4):614-626
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