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1 . Academic Journal
Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype
저자
by
Ana Margarida Medeiros
;
Ana Catarina Alves
;
Beatriz Miranda
;
Joana Rita Chora
;
Mafalda Bourbon
, et al.
소스
Journal of Lipid Research, Vol 65, Iss 2, Pp 100490- (2024)
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7 . Academic Journal
DYRK1A-related intellectual disability syndrome: a cohort of Portuguese patients
저자
by
Raquel Gouveia-Silva
;
João Rodrigues-Alves
;
Juliette Dupont
;
Oana Moldovan
;
Patrícia Dias
, et al.
소스
Portuguese Journal of Pediatrics, Vol 55, Iss 1 (2024)
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7 . Academic Journal
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
저자
by
Afif Ben-Mahmoud
;
Shotaro Kishikawa
;
Vijay Gupta
;
Natalia T. Leach
;
Yiping Shen
, et al.
소스
Scientific Reports, Vol 13, Iss 1, Pp 1-23 (2023)
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7 . Academic Journal
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD
저자
by
Sofia Jorge
;
Kendrah Kidd
;
Petr Vylet’al
;
Estela Nogueira
;
Lauren Martin
, et al.
소스
Kidney International Reports, Vol 8, Iss 5, Pp 1112-1116 (2023)
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7 . Academic Journal
Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal
저자
by
Ana Catarina Alves
;
Beatriz Miranda
;
Oana Moldovan
;
Raquel Espírito Santo
;
Raquel Gouveia Silva
, et al.
소스
Frontiers in Genetics, Vol 13 (2023)
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7 . Academic Journal
Cardiovascular manifestations of type IV Ehlers-Danlos syndrome – A case report
저자
by
Tiago Sepúlveda Santos
;
Rita Marçal
;
Oana Moldovan
;
Leonor Carvalho
;
José Luís Ducla-Soares
.
소스
Revista Portuguesa de Cardiologia, Vol 41, Iss 5, Pp 425-430 (2022)
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7 . Academic Journal
P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies
저자
by
Philip Boone
;
Kamli Faour
;
Kiana Mohajeri
;
John Lemanski
;
Bimal Jana
, et al.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100188- (2023)
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7 . Academic Journal
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures
저자
by
Beryl Royer-Bertrand
;
Marine Jequier Gygax
;
Katarina Cisarova
;
Jill A. Rosenfeld
;
Jennifer A. Bassetti
, et al.
소스
Molecular Autism, Vol 12, Iss 1, Pp 1-11 (2021)
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7 . Academic Journal
Recomendações para a realização de testes genéticos em cardiologia – revisão das principais diretrizes internacionais
저자
by
Alexandra Sousa
;
Oana Moldovan
;
Ana Lebreiro
;
Mafalda Bourbon
;
Natália António
, et al.
소스
Revista Portuguesa de Cardiologia, Vol 39, Iss 10, Pp 597-610 (2020)
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7 . Academic Journal
Mowat-Wilson syndrome: growth charts
저자
by
Ivan Ivanovski
;
Olivera Djuric
;
Serena Broccoli
;
Stefano Giuseppe Caraffi
;
Patrizia Accorsi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
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