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1 . Academic Journal
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer
저자
by
Carolyn Horton
;
Ashley Cass
;
Blair R. Conner
;
Lily Hoang
;
Heather Zimmermann
, et al.
소스
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-6 (2022)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal
저자
by
Susan Cordes Selby
;
Aiko Iwata‐Otsubo
;
Paula Delk
;
Todd D. Nebesio
;
Anisha Gohil
, et al.
소스
Clinical Case Reports, Vol 9, Iss 5, Pp n/a-n/a (2021)
Open Access (Wiley)
Open Access (DOAJ)
Scopus
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7 .
Mode of delivery preference in prenatal genetic counseling between English‐ and
Spanish‐speaking
patients at two
US
medical institutions
저자
by
Taylor A. Steyer
;
Priscila D. Hodges
;
Caroline E. Rouse
;
Wilfredo Torres‐Martinez
;
Leah Wetherill
, et al.
소스
Journal of Genetic Counseling
.
Open Access (OpenAIRE)
Scopus
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7 .
Genotype-Phenotype Correlation of Distal 2q37 Deletions
저자
by
Aiko Iwata-Otsubo
;
Kahlen R. Darr
;
Wilfredo Torres-Martinez
;
Jennelle C. Hodge
.
소스
Cytogenetic and Genome Research
. 162:237-243
Web of Science
Scopus
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6 .
EVEN‐PLUS
syndrome: A case report with novel variants in
HSPA9
and evidence of
HSPA9
gene dysfunction
저자
by
Georgianne Younger
;
Victoria M. Pratt
;
Kayla Treat
;
Francesco Vetrini
;
David D. Weaver
, et al.
소스
American Journal of Medical Genetics Part A
. 182:2501-2507
Web of Science
Scopus
JCR 저널정보
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7 .
Fetal
MRI
and ultrasound findings of a confirmed asparagine synthetase deficiency case
저자
by
Caroline E. Rouse
;
Wilfredo Torres-Martinez
;
Julie L. Piechan
;
Paula Delk
;
Lauren E. Churchill
, et al.
소스
Prenatal Diagnosis
. 40:1343-1347
Web of Science
Scopus
JCR 저널정보
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7 .
Positive and Negative Professionalism Experiences of Genetic Counseling Students in the United States and Canada
저자
by
Paula Delk
;
Melissa Wesson
;
Wilfredo Torres-Martinez
;
Leah Wetherill
;
Pauline Aamodt
, et al.
소스
J Genet Couns
Open Access (OpenAIRE)
요약보기
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RefWorks
7 .
14. Deletions resulting in Brachydactyly Mental Retardation Syndrome (BDMR): Multiple contributing regions in distal 2q37
저자
by
Aiko Otsubo
;
Kahlen Darr
;
Wilfredo Torres-Martinez
;
Jennelle Hodge
.
소스
Cancer Genetics
. :5
Full Text (Clinical Key)
Web of Science
Scopus
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6 .
Phenotype delineation of ZNF462 related syndrome
저자
by
Sarah Savage
;
Maximilian Muenke
;
Kym M. Boycott
;
Lynn Pais
;
Koen L.I. van Gassen
, et al.
소스
American Journal of Medical Genetics. Part A, 179(10), 2075. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 179, 2075-2082
American Journal of Medical Genetics. Part A, 179, 10, pp. 2075-2082
Open Access (OpenAIRE)
Scopus
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7 .
Sinus pericranii in achondroplasia: a case report and review of the literature
저자
by
Abbey A. Scott
;
Katelyn D. Hodge
;
Jodi L. Smith
;
Wilfredo Torres-Martinez
;
David D. Weaver
, et al.
소스
Clinical Dysmorphology
. 26:252-255
Full Text (LWW)
Web of Science
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