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1 . Academic Journal
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Abbott, Kristin M.
;
Banka, Siddharth
;
de Boer, Elke
;
Ciolfi, Andrea
;
Clayton-Smith, Jill
, et al.
소스
In
Genetics in Medicine
April 2023 25(4)
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7 . Academic Journal
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
저자
by
Smolen, Corrine
;
Jensen, Matthew
;
Dyer, Lisa
;
Pizzo, Lucilla
;
Tyryshkina, Anastasia
, et al.
소스
In
The American Journal of Human Genetics
7 December 2023 110(12):2015-2028
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7 . Academic Journal
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
저자
by
Bourgon, Nicolas
;
Garde, Aurore
;
Bruel, Ange-Line
;
Lefebvre, Mathilde
;
Mau-Them, Frederic Tran
, et al.
소스
European Journal of Human Genetics
. 30(8):967-975
Web of Science
Scopus
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7 . Academic Journal
Feasibility of comparing medical management and surgery (with neurosurgery or stereotactic radiosurgery) with medical management alone in people with symptomatic brain cavernoma – protocol for the Cavernomas: A Randomised Effectiveness (CARE) pilot trial
저자
by
Khalid Hamandi
;
Julie Woodfield
;
Smriti Agarwal
;
Richard Edwards
;
John Williamson
, et al.
소스
BMJ Open, Vol 13, Iss 8 (2023)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Safety and efficacy of oral fexinidazole in children with gambiense human African trypanosomiasis: a multicentre, single-arm, open-label, phase 2–3 trial
저자
by
Kande Betu Kumesu, Victor
;
Mutombo Kalonji, Wilfried
;
Bardonneau, Clélia
;
Valverde Mordt, Olaf
;
Ngolo Tete, Digas
, et al.
소스
In
The Lancet Global Health
November 2022 10(11):e1665-e1674
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7 . Academic Journal
Oral fexinidazole for stage 1 or early stage 2 African Trypanosoma brucei gambiense trypanosomiasis: a prospective, multicentre, open-label, cohort study
저자
by
Kande Betu Ku Mesu, Victor
;
Mutombo Kalonji, Wilfried
;
Bardonneau, Clélia
;
Valverde Mordt, Olaf
;
Ngolo Tete, Digas
, et al.
소스
In
The Lancet Global Health
July 2021 9(7):e999-e1008
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7 . Academic Journal
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations
저자
by
Fusaro, Mathieu
;
Vincent, Aline
;
Castelle, Martin
;
Rosain, Jérémie
;
Fournier, Benjamin
, et al.
소스
Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases
. 41(5):958-966
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7 . Academic Journal
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
저자
by
Juven, Aurélien
;
Nambot, Sophie
;
Piton, Amélie
;
Jean-Marçais, Nolwenn
;
Masurel, Alice
, et al.
소스
European Journal of Human Genetics
. 28(8):1044-1055
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7 . Academic Journal
Oral fexinidazole for stage 1 or early stage 2 African Trypanosoma brucei gambiense trypanosomiasis: a prospective, multicentre, open-label, cohort study
저자
by
Victor Kande Betu Ku Mesu, DPH
;
Wilfried Mutombo Kalonji, MD
;
Clélia Bardonneau, MSc
;
Olaf Valverde Mordt, MSc
;
Digas Ngolo Tete, MPH
, et al.
소스
The Lancet Global Health, Vol 9, Iss 7, Pp e999-e1008 (2021)
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7 . Academic Journal
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
저자
by
Vincenzo Salpietro
;
Christine L. Dixon
;
Hui Guo
;
Oscar D. Bello
;
Jana Vandrovcova
, et al.
소스
Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
Open Access (DOAJ)
Web of Science
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