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1 . Academic Journal
Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant
저자
by
Travessa, André M.
;
Dias, Patrícia
;
Rosmaninho-Salgado, Joana
;
Aza-Carmona, Miriam
;
Moldovan, Oana
, et al.
소스
In
European Journal of Medical Genetics
November 2023 66(11)
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7 . Academic Journal
Adult syndromology: challenges, opportunities and perspectives: Illustrated by the description of four adults with Costello syndrome
저자
by
Schmetz, Ariane
;
Ballesta-Martínez, Maria Juliana
;
Isidor, Bertrand
;
Sousa, Ana Berta
;
Wieczorek, Dagmar
, et al.
소스
Medizinische Genetik
. 36(2):95-102
Full Text(De Gruyter)
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7 . Academic Journal
Genetic profile of syndromic retinitis pigmentosa in Portugal
저자
by
Cortinhal, Telmo
;
Santos, Cristina
;
Vaz-Pereira, Sara
;
Marta, Ana
;
Duarte, Lilianne
, et al.
소스
Graefe's Archive for Clinical and Experimental Ophthalmology: Incorporating German Journal of Ophthalmology
. 262(6):1883-1897
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7 . Academic Journal
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion.
저자
by
Rodrigues, Raquel
;
Soeiro e Sá, Mariana
;
Sousa, Ana
;
Sousa, Ana Berta
.
소스
Clinical Dysmorphology; Apr2023, Vol. 32 Issue 2, p70-73, 4p
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6 . Periodical
Clinical characterization of a patient with CNOT2haploinsufficiency caused by a de novopartial deletion
저자
by
Rodrigues, Raquel
;
Soeiro e Sá, Mariana
;
Sousa, Ana
;
Sousa, Ana Berta
.
소스
Clinical Dysmorphology; April 2023, Vol. 32 Issue: 2 p70-73, 4p
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6 .
New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene
저자
by
Silva, Raquel Gouveia
;
Dupont, Juliette
;
Silva, Eduardo
;
Sousa, Ana Berta
.
소스
In
Journal of AAPOS
October 2022 26(5):268-270
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6 . Academic Journal
Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia.
저자
by
Costa, Sara
;
Sampaio, Lurdes
;
Sousa, Ana Berta
;
Chao Xing
;
Agarwal, Anil K.
, et al.
소스
Journal of Clinical Endocrinology & Metabolism; Sep2022, Vol. 107 Issue 9, p2433-2438, 6p
Full Text (OUP)
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7 . Academic Journal
Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz syndrome (SLOS) in a 46,XX fetus
저자
by
Travessa, André
;
Dias, Patrícia
;
Rocha, Pedro
;
Sousa, Ana Berta
.
소스
In
Taiwanese Journal of Obstetrics & Gynecology
August 2017 56(4):541-544
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6 . Academic Journal
The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases.
저자
by
Zinterl, Carolina
;
Costa-Reis, Patrícia
;
Esteves, Isabel Castro
;
Marques, José Gonçalo
;
Sousa, Ana Berta
, et al.
소스
Journal of Multidisciplinary Healthcare; May2022, Vol. 15, p999-1010, 12p
Open Access (T&F)
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7 . Academic Journal
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.
저자
by
Polla, Daniel L.
;
Edmondson, Andrew C.
;
Duvet, Sandrine
;
March, Michael E.
;
Sousa, Ana Berta
, et al.
소스
American Journal of Human Genetics
. Jul2021, Vol. 108 Issue 7, p1342-1349. 8p.
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