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1 . Academic Journal
Prevalence and Incidence of Huntington's Disease.
저자
by
Strong, Mark
;
Quarrell, Oliver W.
.
소스
Movement Disorders
. Aug2023, Vol. 38 Issue 8, p1570-1572. 3p.
Full Text (Wiley)
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4 . Periodical
Biallelic variants in PIGNcause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
저자
by
Loong, Lucy
;
Tardivo, Agostina
;
Knaus, Alexej
;
Hashim, Mona
;
Pagnamenta, Alistair T.
, et al.
소스
Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p37-48, 12p
Full Text (ScienceDirect)
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7 . Academic Journal
Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism.
저자
by
Matthews, Harold S.
;
Palmer, Richard L.
;
Baynam, Gareth S.
;
Quarrell, Oliver W.
;
Klein, Ophir D.
, et al.
소스
Scientific Reports
. 6/9/2021, Vol. 11 Issue 1, p1-12. 12p.
Web of Science
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7 . Academic Journal
Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): A Cohort Study
저자
by
Lord, Jenny
;
McMullan, Dominic J.
;
Eberhardt, Ruth Y.
;
Rinck, Gabriele
;
Hamilton, Susan J.
, et al.
소스
Obstetrical & Gynecological Survey
. Jul 01, 2019 74(7):394-396
Full Text (LWW)
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7 . Periodical
27 years of prenatal diagnosis for Huntington disease in the United Kingdom
저자
by
Piña-Aguilar, Raul E.
;
Simpson, Sheila A.
;
Alshatti, Abdulrahman
;
Clarke, Angus
;
Craufurd, David
, et al.
소스
Genetics in Medicine; July 2019, Vol. 21 Issue: 7 p1639-1643, 5p
Full Text (ScienceDirect)
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7 . Academic Journal
Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.
저자
by
Hale, Gordon I.
;
Cohen, Marta C.
;
Quarrell, Oliver W.
;
McGrath, John A.
;
Messenger, Andrew G.
.
소스
Pediatric & Developmental Pathology; Nov/Dec2018, Vol. 21 Issue 6, p580-584, 5p
Web of Science
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7 . Academic Journal
Letter in Response to Tibben et al., Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners.
저자
by
Quarrell, Oliver W.
;
Delatycki, Martin B.
;
Clarke, Angus J.
;
Lahiri, Nayana
;
Craufurd, David
, et al.
소스
Journal of Huntington's Disease
. 2019, Vol. 8 Issue 3, p357-359. 3p.
Scopus
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7 . Academic Journal
Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences.
저자
by
Quarrell, Oliver W.
;
Clarke, Angus J.
;
Compton, Cecilia
;
de Die‐Smulders, Christine E. M.
;
Fryer, Alan
, et al.
소스
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics; Jan2018, Vol. 177 Issue 1, p35-39, 5p
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7 . Academic Journal
Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions†
저자
by
Hannes, Femke
;
Houdt, Jeroen Van
;
Quarrell, Oliver W.
;
Poot, Martin
;
Hochstenbach, Ron
, et al.
소스
Human Mutation
. Dec 01, 2010 31(12):1343-1351
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7 . Academic Journal
Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling
저자
by
Li, Yun
;
Laue, Kathrin
;
Temtamy, Samia
;
Aglan, Mona
;
Kotan, L. Damla
, et al.
소스
American Journal of Human Genetics
. Dec2010, Vol. 87 Issue 6, p757-767. 11p.
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