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1 . Academic Journal
P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes
저자
by
Emily Groopman
;
Jenny Goldstein
;
Amanda Thomas-Wilson
;
Daniel Reich
;
Emily Kyle
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100879- (2024)
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7 . Academic Journal
P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Variant Curation Expert Panel: Addressing the need for genetic variant classification in G6PD deficiency
저자
by
Shruthi Mohan
;
Renee Geck
;
Shawn Fayer
;
Roseann Donnelly
;
Mary Relling
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100885- (2024)
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7 . Academic Journal
P641: Application of AlphaMissense prediction to pathogenicity classification of missense variants from clinical exome sequencing
저자
by
Xinming Zhuo
;
Vimla Aggarwal
;
Jun Liao
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101547- (2024)
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5 . Academic Journal
P702: Mosaic monosomy/partial trisomy 13 resulting from an unstable ring chromosome in a child with multiple congenital anomalies and developmental delay
저자
by
Xin Bi
;
Alejandro Iglesias
;
Brynn Levy
;
Vimla Aggarwal
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101606- (2024)
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6 . Academic Journal
The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors
저자
by
Joshua L. Deignan
;
Vimla Aggarwal
;
Allen E. Bale
;
Daniel B. Bellissimo
;
Jessica K. Booker
, et al.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101820- (2024)
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7 . Academic Journal
A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report
저자
by
Natalie C. Lippa
;
Subit Barua
;
Vimla Aggarwal
;
Elaine Pereira
;
Jennifer M. Bain
.
소스
BMC Neurology, Vol 21, Iss 1, Pp 1-4 (2021)
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7 .
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains ofKCNH5
저자
by
Hannah C. Happ
;
Lynette G. Sadleir
;
Matthew Zemel
;
Guillem de Valles-Ibáñez
;
Michael S. Hildebrand
, et al.
소스
Neurology
Neurology, 2023, 100 (6), pp.e603-e615. ⟨10.1212/WNL.0000000000201492⟩
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7 .
Investigation into the genetics of fetal congenital lymphatic anomalies
저자
by
Daniella Rogerson
;
Anna Alkelai
;
Jessica Giordano
;
Madhulatha Pantrangi
;
Meng‐Chang Hsiao
, et al.
소스
Prenatal Diagnosis
.
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7 .
Impact of pre‐emptive rapid testing for glucose‐6‐phosphate dehydrogenase deficiency prior to rasburicase administration at a tertiary care centre: A retrospective study
저자
by
Mythily Ganapathi
;
Peter Campbell
;
Kenneth Ofori
;
Vimla Aggarwal
;
Richard O. Francis
, et al.
소스
British Journal of Clinical Pharmacology
. 88:4163-4170
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7 .
Contributors
저자
by
Vimla Aggarwal
;
T.M. Barber
;
Christian M. Becker
;
Karanveer Bhangu
;
Mats Brännström
, et al.
소스
Human Reproductive and Prenatal Genetics ISBN: 9780323913805
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