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1 . Academic Journal
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
저자
by
Claudia M. B. Carvalho
;
Zeynep Coban-Akdemir
;
Hadia Hijazi
;
Bo Yuan
;
Matthew Pendleton
, et al.
소스
Genome Medicine, Vol 11, Iss 1, Pp 1-14 (2019)
Open Access (BioMed Central)
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7 . Academic Journal
Identification of novel candidate disease genes from de novo exonic copy number variants
저자
by
Tomasz Gambin
;
Bo Yuan
;
Weimin Bi
;
Pengfei Liu
;
Jill A. Rosenfeld
, et al.
소스
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Open Access (BioMed Central)
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7 .
Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability
저자
by
Estelle Colin
;
Céline Bris
;
Patricia I. Bader
;
Stéphanie Rouleau
;
Dominique Bonneau
, et al.
소스
Clinical genetics
Clinical genetics, 2019, 96 (4), pp.354-358. ⟨10.1111/cge.13603⟩
Web of Science
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7 .
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
저자
by
Shalini N. Jhangiani
;
Chad A. Shaw
;
Rupa S. Kanchi
;
Patricia I. Bader
;
John Beaulaurier
, et al.
소스
Genome Medicine, Vol 11, Iss 1, Pp 1-14 (2019)
Genome Medicine
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7 .
Author response for 'Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability'
저자
by
Clara Houdayer
;
Patricia I. Bader
;
Estelle Colin
;
Alban Ziegler
;
Dominique Bonneau
, et al.
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7 .
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications
저자
by
Monica Proud
;
Christian P. Schaaf
;
A L Beaudet
;
Danielle Guffey
;
Marwan Shinawi
, et al.
소스
Journal of Autism and Developmental Disorders
. 47:549-562
Open Access (OpenAIRE)
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7 .
Identification of novel candidate disease genes from de novo exonic copy number variants
저자
by
Christian P. Schaaf
;
Janice L. Smith
;
Rachel Westman
;
Ronit Marom
;
Laurence Faivre
, et al.
소스
Genome Medicine
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Open Access (BioMed Central)
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7 .
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia
저자
by
Robert B. Hufnagel
;
Patricia I. Bader
;
K. Nicole Weaver
;
Sophia B. Hufnagel
;
Elizabeth K. Schorry
, et al.
소스
Am J Med Genet A
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7 .
Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications
저자
by
Jun Ge
;
Pawel Stankiewicz
;
Jill A. Rosenfeld
;
May Ali
;
Patricia I. Bader
, et al.
소스
Journal of autism and developmental disorders
. 47(3)
EBSCOHost PDF
Open Access (OpenAIRE)
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7 .
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27
저자
by
J. Lloyd Holder
;
Patricia I. Bader
;
Erin Powell
;
Jill V. Hunter
;
Ayelet Erez
, et al.
소스
European Journal of Human Genetics
. 23:54-60
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