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1 .
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
저자
by
Sixto Garcia Minaur
;
Pankaj B. Agrawal
;
A. Micheil Innes
;
Catherine A. Brownstein
;
David S. Wargowski
, et al.
소스
Am J Med Genet A
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7 .
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
저자
by
Nicole Fleischer
;
Grace M. Anbouba
;
Vandana Shashi
;
Thomas Meitinger
;
Damara Ortiz
, et al.
소스
GENETICS IN MEDICINE
Genetics in Medicine
Paediatrics Publications
Genet. Med. 23, 384–395 (2021)
Open Access (OpenAIRE)
Scopus
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7 .
Disparities in Health Supervision for Children With Down Syndrome
저자
by
Katie B Williams
;
David S. Wargowski
;
Jens C. Eickhoff
;
Ellen R. Wald
.
소스
Clinical Pediatrics
. 56:1319-1327
Web of Science
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6 .
Increasing Access to High Value Care: Preventing Complications in Common Disorders
저자
by
Lisa M. Arkin
;
David S. Wargowski
;
Beverly Aagaard-Kienitz
;
Catharine B. Garland
;
Lauren Brin Hermans
, et al.
소스
Telemedicine journal and e-health : the official journal of the American Telemedicine Association
. 25(5)
Scopus
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7 .
Filippi syndrome: Report of three additional cases
저자
by
Janet L. Williams
;
Richard M. Pauli
;
David S. Wargowski
;
Marc S. Williams
;
Beth A. Pletcher
.
소스
American Journal of Medical Genetics
. 87:128-133
Scopus
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7 .
Homonucleotide expansion and contraction mutations ofPAX2 and inclusion of Chiari 1 malformation as part of Renal-Coloboma syndrome
저자
by
Lisa A. Schimmenti
;
Heather H. Shim
;
Jonathan D. Wirtschafter
;
Valerie A. Panzarino
;
Clifford E. Kashtan
, et al.
소스
Human Mutation
. 14:369-376
Web of Science
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7 .
Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome
저자
by
G Coppa
;
P Maaswinkel-Mooy
;
Jürgen Kohlhase
;
Susan J. Kirkpatrick
;
Martijn H. Breuning
, et al.
소스
Scopus-Elsevier
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7 .
Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: A new, lethal syndrome
저자
by
David S. Wargowski
;
Kate J. Thompson
;
Fuki M. Hisama
;
Miguel Reyes-Múgica
;
Maurice J. Mahoney
.
소스
American Journal of Medical Genetics
. 80:335-342
Scopus
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7 .
Inappropriate feeding behaviors and dietary intakes in children with fetal alcohol spectrum disorder or probable prenatal alcohol exposure
저자
by
David S. Wargowski
;
Susan M. Smith
;
Rachel L. Werts
;
Sandra C. Van Calcar
.
소스
Alcoholism, clinical and experimental research
. 38(3)
Open Access (OpenAIRE)
Scopus
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6 .
Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: New entity or variant of Walker-Warburg syndrome?
저자
by
R. Wes Tyson
;
David S. Wargowski
;
Jan M. Friedman
;
Margaret G. Norman
;
David Chitayat
.
소스
American Journal of Medical Genetics
. 39:19-24
Scopus
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