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1 . Academic Journal
NKX6-2 Disease in Two Unrelated Patients with Early-Onset Spastic Quadriplegia and Diffuse Hypomyelinating Leukodystrophy
저자
by
Shaymaa Shurrab
;
Dawn Cordeiro
;
Saadet Mercimek-Andrews
;
Andrew Y․ Shuen
.
소스
Brain Disorders, Vol 9, Iss , Pp 100069- (2023)
Full Text (ScienceDirect)
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6 . Academic Journal
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
저자
by
Erfan Aref-Eshghi
;
Eric G. Bend
;
Rebecca L. Hood
;
Laila C. Schenkel
;
Deanna Alexis Carere
, et al.
소스
Nature Communications, Vol 9, Iss 1, Pp 1-15 (2018)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family
저자
by
Vito Guarnieri
;
Raewyn M. Seaberg
;
Catherine Kelly
;
M. Jean Davidson
;
Simon Raphael
, et al.
소스
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
Open Access (BioMed Central)
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Scopus
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7 . Academic Journal
Erratum to: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family
저자
by
Vito Guarnieri
;
Raewyn M. Seaberg
;
Catherine Kelly
;
M. Jean Davidson
;
Simon Raphael
, et al.
소스
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-1 (2017)
Open Access (BioMed Central)
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7 .
Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes
저자
by
Maria O. Levitin
;
Lettie E Rawlins
;
Gabriela Sanchez-Andrade
;
Osama A. Arshad
;
Stephan C. Collins
, et al.
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7 .
Papillomatosis of the hard palate
저자
by
Christina McCord
;
Andrew Y. Shuen
;
Michael Vizirakis
;
Lucy Leon
.
소스
The Journal of the American Dental Association
. 150:788-793
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6 .
Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue
저자
by
Theodore W. Laetsch
;
Luis Alberto Pedroza
;
Brittany Campbell
;
Mark L. Bernstein
;
An Van Damme
, et al.
소스
Journal of clinical oncology, Vol. 37, no.6, p. 461-470 (2019)
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7 .
An infant withMLH3variants,FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study
저자
by
Samuel P. Strom
;
Naghmeh Dorrani
;
Jean Reiss
;
Hane Lee
;
Peter Shintaku
, et al.
소스
Genes, Chromosomes and Cancer
. 55:131-142
Web of Science
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7 .
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome
저자
by
Rhona M. Jack
;
Sommer Gaughan
;
Andrew Y. Shuen
;
David M. Mirsky
;
Clara D.M. van Karnebeek
, et al.
소스
Molecular genetics and metabolism, 116(1-2), 35-43. Academic Press Inc.
Web of Science
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7 .
Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family
저자
by
Raewyn M. Seaberg
;
David E. C. Cole
;
Geoffrey N. Hendy
;
Alfredo Scillitani
;
Simon J. Raphael
, et al.
소스
BMC Medical Genetics
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-9 (2017)
Open Access (BioMed Central)
Open Access (OpenAIRE)
Scopus
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