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1 . Academic Journal
Differences in gonadal tissue cryopreservation practices for differences of sex development across regions in the United States
저자
by
Aisha L. Siebert
;
Veronica Gomez-Lobo
;
Emilie K. Johnson
;
Leena Nahata
;
Kyle E. Orwig
, et al.
소스
Frontiers in Endocrinology, Vol 13 (2023)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
Identification of 22 susceptibility loci associated with testicular germ cell tumors
저자
by
John Pluta
;
Louise C. Pyle
;
Kevin T. Nead
;
Rona Wilf
;
Mingyao Li
, et al.
소스
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Open Access (DOAJ)
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7 . Academic Journal
Integrated Molecular Characterization of Testicular Germ Cell Tumors
저자
by
Hui Shen
;
Juliann Shih
;
Daniel P. Hollern
;
Linghua Wang
;
Reanne Bowlby
, et al.
소스
Cell Reports, Vol 23, Iss 11, Pp 3392-3406 (2018)
Full Text (ScienceDirect)
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7 .
Expanding the reproductive organ phenotype of CHD7 ‐spectrum disorder
저자
by
Tomoki T. Nomakuchi
;
Melinda Danowitz
;
Blythe Stewart
;
Jacqueline Leonard
;
Kosuke Izumi
, et al.
소스
American Journal of Medical Genetics Part A
. 191:1418-1424
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7 .
Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes
저자
by
Louise C. Pyle
;
Jung Kim
;
Jonathan Bradfield
;
Scott M. Damrauer
;
Kurt D'Andrea
, et al.
소스
European Urology
.
Scopus
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7 .
Supplementary Data from A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers
저자
by
Kara N. Maxwell
;
Maureen E. Murphy
;
Raul C. Ribeiro
;
Gerard P. Zambetti
;
Richard W. Kriwacki
, et al.
소스
Open Access (OpenAIRE)
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7 .
Data from A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers
저자
by
Kara N. Maxwell
;
Maureen E. Murphy
;
Raul C. Ribeiro
;
Gerard P. Zambetti
;
Richard W. Kriwacki
, et al.
소스
Open Access (OpenAIRE)
요약보기
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7 .
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene
저자
by
Marjon van Slegtenhorst
;
Paul Lasko
;
Jill R. Murrell
;
Romy van de Putte
;
Courtney Manning
, et al.
소스
Clinical Genetics, 101, 183-189
Clinical Genetics, 101, 2, pp. 183-189
Clinical Genetics, 101(2), 183-189. Wiley
Clinical Genetics, 101(2), 183-189. Wiley-Blackwell Publishing Ltd
Open Access (OpenAIRE)
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7 .
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care
저자
by
Katherine M. Szigety
;
Terrence B. Crowley
;
Kimberly B. Gaiser
;
Erin Y. Chen
;
Jessica R.C. Priestley
, et al.
소스
Pediatrics
Open Access (OpenAIRE)
Scopus
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7 .
Further delineation of a recognizable type of syndromic short stature caused by biallelic
SEMA3A
loss‐of‐function variants
저자
by
Maria Helgeson
;
Hari Prasanna Subramanian
;
Alexander F. Gileta
;
Louise C. Pyle
;
Colin P. Hawkes
, et al.
소스
Am J Med Genet A
Open Access (OpenAIRE)
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