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1 . Academic Journal
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
저자
by
Pooja Biswas
;
Adda L Villanueva
;
Angel Soto-Hermida
;
Jacque L Duncan
;
Hiroko Matsui
, et al.
소스
PLoS Genetics, Vol 17, Iss 10, p e1009848 (2021)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma
저자
by
Douglas Ralph
;
Michael A. Levine
;
Gabriele Richard
;
Michelle M. Morrow
;
Elizabeth K. Flynn
, et al.
소스
Human Mutation
. 43:1183-1200
Web of Science
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7 .
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans
저자
by
Renkui Bai
;
Sean Hofherr
;
Amanda Balog
;
Xinyue Liu
;
Joseph M. Devaney
, et al.
소스
Genetics in Medicine
. 23:1514-1521
Full Text (ScienceDirect O/A)
Web of Science
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7 .
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss
저자
by
Robert Chen
;
Maria Alejandra Diaz‐Miranda
;
Erfan Aref‐Eshghi
;
Tiffiney R. Hartman
;
Christopher Griffith
, et al.
소스
Human mutationREFERENCES
.
Scopus
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7 .
Axenfeld-Rieger syndrome: more than meets the eye
저자
by
Linda M. Reis
;
Mohit Maheshwari
;
Jenina Capasso
;
Huban Atilla
;
Lubica Dudakova
, et al.
소스
Journal of medical genetics
.
Full Text (BMJ Journals)
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7 .
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)
저자
by
Carolyn Y. Ho
;
John Garcia
;
Tami Johnston
;
Joseph Maleszewski
;
Alexander Ing
, et al.
소스
The Journal of Molecular Diagnostics : JMD
Full Text (Clinical Key)
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7 .
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants
저자
by
Amy K. Johnson
;
Duanjun Tan
;
Lora J. H. Bean
;
Arunkanth Ankala
;
Hua Gao
, et al.
소스
Genetics in Medicine
. 22:336-344
Full Text (ScienceDirect O/A)
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7 .
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis
저자
by
John Suk
;
S. Amer Riazuddin
;
Kelly A. Frazer
;
Kari Branham
;
Pooja Biswas
, et al.
소스
PLoS genetics, vol 17, iss 10
PLoS Genetics, Vol 17, Iss 10, p e1009848 (2021)
PLoS Genetics
Open Access (OpenAIRE)
요약보기
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7 .
Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience
저자
by
Howaida Mohd
;
Karen El-Akouri
;
Reem Al Sulaiman
;
Nader Al-Dewik
;
Benjamin D. Solomon
, et al.
소스
American Journal of Medical Genetics. Part a
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations
저자
by
Alexander Maley
;
Barbara Binder
;
Adam E. Bennett
;
Karina L. Vivar
;
Keith A. Choate
, et al.
소스
Journal of the American Academy of Dermatology
. 80:617-625
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