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11 . Academic Journal
NIPT and Informed Consent: an Assessment of Patient Understanding of a Negative NIPT Result.
저자
by
Piechan, Julie
;
Hines, Karrie
;
Koller, Daniel
;
Stone, Kristyne
;
Quaid, Kimberly
, et al.
소스
Journal of Genetic Counseling; Oct2016, Vol. 25 Issue 5, p1127-1137, 11p
Web of Science
Scopus
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17 . Academic Journal
EVEN-PLUSsyndrome: A case report with novel variants inHSPA9and evidence ofHSPA9gene dysfunction
저자
by
Younger, Georgianne
;
Vetrini, Francesco
;
Weaver, David D.
;
Lynnes, Ty C.
;
Treat, Kayla
, et al.
소스
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
; NOV 2020, 182 11, p2501-p2507, 7p.
Scopus
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17 . Academic Journal
Positive and negative professionalism experiences of genetic counseling students in the United States and Canada
저자
by
Aamodt, Pauline
;
Wetherill, Leah
;
Delk, Paula
;
Torres-Martinez, Wilfredo
;
Vance, Gail H.
, et al.
소스
JOURNAL OF GENETIC COUNSELING
; OCT 3 2020, 15p.
Scopus
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17 . Academic Journal
FetalMRIand ultrasound findings of a confirmed asparagine synthetase deficiency case
저자
by
Churchill, Lauren E.
;
Delk, Paula R.
;
Wilson, Theodore E.
;
Torres-Martinez, Wilfredo
;
Rouse, Caroline E.
, et al.
소스
PRENATAL DIAGNOSIS
; JUL 19 2020, 5p.
Scopus
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17 . Academic Journal
Prenatal diagnosis of Carpenter syndrome: Looking beyond craniosynostosis and polysyndactyly
저자
by
Victorine, Anna S.
;
Weida, Jennifer
;
Hines, Karrie A.
;
Robinson, Barrett
;
Torres-Martinez, Wilfredo
, et al.
소스
American Journal Of Medical Genetics - A
. Mar 01, 2014 164(3):820-823
Web of Science
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17 . Academic Journal
A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome?
저자
by
Roberts, Jessica
;
Torres-Martinez, Wilfredo
;
Farrow, Emily
;
Stevens, Abby
;
Delk, Paula
, et al.
소스
American Journal Of Medical Genetics - A
. Feb 01, 2014 164(2):287-290
Web of Science
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17 . Academic Journal
SPURIOUS CASE OF XX MALENESS IN A PATIENT WITH A HISTORY OF WISKOTT-ALDRICH SYNDROME
저자
by
Nebesio, Todd D.
;
Torres-Martinez, Wilfredo
;
Rink, Richard C.
;
Eugster, Erica A.
.
소스
Endocrine Practice
. Mar 01, 2011 17(2):e1-e3
Full Text (ScienceDirect)
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16 . Academic Journal
Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family
저자
by
Mark, Paul R.
;
Torres-Martinez, Wilfredo
;
Lachman, Ralph S.
;
Weaver, David D.
.
소스
American Journal Of Medical Genetics - A
. Jan 01, 2011 155(1):174-179
Web of Science
Scopus
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16 . Academic Journal
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
저자
by
Rosenfeld, Jill
;
Amrom, Dina
;
Andermann, Eva
;
Andermann, Frederick
;
Veilleux, Martin
, et al.
소스
Neurogenetics; Feb2012, Vol. 13 Issue 1, p31-47, 17p
Full Text (Springer)
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17 . Academic Journal
Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?
저자
by
Wójcik, Cezary
;
Volz, Kim
;
Ranola, Maria
;
Kitch, Karla
;
Karim, Tariza
, et al.
소스
American Journal Of Medical Genetics - A
. Feb 01, 2010 152A(2):479-483
Web of Science
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