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11 . Academic Journal
Missense Pathogenic variants in KIF4A Affect Dental Morphogenesis Resulting in X-linked Taurodontism, Microdontia and Dens-Invaginatus
저자
by
Lord J.J. Gowans
;
Sophia Cameron-Christie
;
Rebecca L. Slayton
;
Tamara Busch
;
Miguel Romero-Bustillos
, et al.
소스
Frontiers in Genetics, Vol 10 (2019)
Open Access (DOAJ)
Web of Science
Scopus
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17 . Academic Journal
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.
저자
by
Edgar T Hoorntje
;
Anna Posafalvi
;
Petros Syrris
;
K Joeri van der Velde
;
Marieke C Bolling
, et al.
소스
PLoS ONE, Vol 13, Iss 8, p e0203078 (2018)
Open Access (DOAJ)
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17 . Academic Journal
Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis
저자
by
Robert A. Sisk
;
Robert B. Hufnagel
;
Ailee Laham
;
Elizabeth S. Wohler
;
Nara Sobreira
, et al.
소스
Journal of Ophthalmology, Vol 2018 (2018)
Open Access (Wiley)
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17 . Academic Journal
Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.
저자
by
Christoph Preuss
;
Melanie Capredon
;
Florian Wünnemann
;
Philippe Chetaille
;
Andrea Prince
, et al.
소스
PLoS Genetics, Vol 12, Iss 10, p e1006335 (2016)
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17 . Academic Journal
Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia
저자
by
Ruijuan Li
;
Nara Sobreira
;
P. Dane Witmer
;
Keith W. Pratz
;
Evan M. Braunstein
.
소스
Haematologica, Vol 101, Iss 6 (2016)
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17 .
Venous malformation may be a feature of EXT1‐related hereditary multiple exostoses: A report of two unrelated probands
저자
by
Daniah Albokhari
;
Christopher R. Bailey
;
Francis Hwang
;
Clifford R. Weiss
;
Jonathan Forsberg
, et al.
소스
American Journal of Medical Genetics Part A
. 191:1570-1575
Open Access (OpenAIRE)
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17 .
Genetic testing in the evaluation of individuals with clinical diagnosis of atypical
Sturge–Weber
syndrome
저자
by
SangEun Yeom
;
Bernard Cohen
;
Clifford R. Weiss
;
Carolina Montano
;
Elizabeth Wohler
, et al.
소스
American Journal of Medical Genetics Part A
. 191:983-994
Open Access (OpenAIRE)
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17 .
MRM2variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity
저자
by
Anum Shafique
;
Beenish Arif
;
Mary Lynn Chu
;
Ellen Moran
;
Tooba Hussain
, et al.
소스
Journal of Medical Genetics
. 60:352-358
Full Text (BMJ Journals)
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17 .
Mapping Genetic Susceptibility to Stenosis in the Proximal Airway
저자
by
Kayvon Sharif
;
William S. Tierney
;
Ruth J. Davis
;
Elizabeth Wohler
;
Nara Sobreira
, et al.
소스
The Laryngoscope
.
Full Text (Wiley)
Scopus
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17 .
Centers for Mendelian Genomics: A decade of facilitating gene discovery
저자
by
Samantha M. Baxter
;
Jennifer E. Posey
;
Nicole J. Lake
;
Nara Sobreira
;
Jessica X. Chong
, et al.
소스
Genet Med
Full Text (ScienceDirect O/A)
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