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1 . Academic Journal
Molecular genetic characterization of Congolese patients with oculocutaneous albinism
저자
by
Mavinga, Laetitia Mpola
;
Kakiese, Veronique
;
Ngole, Mamy
;
Songo, Cathy
;
Lumaka, Aimé
, et al.
소스
In
European Journal of Medical Genetics
November 2022 65(11)
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7 . Academic Journal
Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience
저자
by
Quelhas, Dulce
;
Martins, Esmeralda
;
Azevedo, Luísa
;
Bandeira, Anabela
;
Diogo, Luísa
, et al.
소스
In
The Journal of Pediatrics
April 2021 231:148-156
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7 . Academic Journal
Next-generation sequencing in prenatal setting: Some examples of unexpected variant association
저자
by
Rinaldi, Berardo
;
Race, Valerie
;
Corveleyn, Anniek
;
Van Hoof, Evelien
;
Bauters, Marijke
, et al.
소스
In
European Journal of Medical Genetics
May 2020 63(5)
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7 . Academic Journal
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature
저자
by
Biard, Jean-Marc
;
Steenhaut, Patricia
;
Bernard, Pierre
;
Race, Valérie
;
Sznajer, Yves
.
소스
In
European Journal of Obstetrics & Gynecology and Reproductive Biology
September 2019 240:232-241
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7 . Academic Journal
Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa.
저자
by
Mbayabo, Gloire
;
Ngole, Mamy
;
Lumbala, Paul Kabuyi
;
Lumaka, Aimé
;
Race, Valerie
, et al.
소스
Hematology
. Dec2023, Vol. 28 Issue 1, p1-8. 8p.
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7 . Conference
268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials
저자
by
Tasca, Giorgio
;
Gomez-Rodulfo, Maria
;
Voermans, Nicol
;
Sacconi, Sabrina
;
Montagnese, Federica
, et al.
소스
In
Neuromuscular Disorders
May 2023 33(5):447-462
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7 . Academic Journal
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
저자
by
Sorte, Hanne
;
Mørkrid, Lars
;
Rødningen, Olaug
;
Kulseth, Mari Ann
;
Stray-Pedersen, Asbjørg
, et al.
소스
In
European Journal of Medical Genetics
March 2012 55(3):196-202
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7 . Academic Journal
Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa.
저자
by
Kabuyi, Paul Lumbala
;
Mbayabo, Gloire
;
Ngole, Mamy
;
Zola, Aimé Lumaka
;
Race, Valerie
, et al.
소스
EJHaem; Aug2023, Vol. 4 Issue 3, p595-601, 7p
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7 . Academic Journal
Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study
저자
by
Debray, Sarah
;
Race, Valérie
;
Crabbé, Veerle
;
Herdewyn, Sarah
;
Matthijs, Gert
, et al.
소스
In
Neurobiology of Aging
December 2013 34(12):2890-2890
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7 . Academic Journal
Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa.
저자
by
Lumbala, Paul Kabuyi
;
Mbayabo, Gloire
;
Ngole, Mamy Nzita
;
Lumaka, Aimé
;
Race, Valerie
, et al.
소스
PLoS ONE
. 12/16/2022, Vol. 17 Issue 12, p1-13. 13p.
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