Vera Lúcia Gil-da-silva-Lopes
Universidade Estadual de Campinas
H-index: 23
Latin America-Brazil
Top articles of Vera Lúcia Gil-da-silva-Lopes
22q11. 2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity
Genes
2024/4/21
Syndromic Retinitis Pigmentosa: A 15-Patient Study
Genes
2024/4/20
Mara Sanches Guaragna
H-Index: 8
Vera Lúcia Gil-Da-Silva-Lopes
H-Index: 15
Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11. 2 Deletion Syndrome
Genetics Research
2024/3/30
Anelisa Gollo Dantas
H-Index: 5
Vera Lúcia Gil-Da-Silva-Lopes
H-Index: 15
Chong Ae Kim
H-Index: 27
Maria Isabel Melaragno
H-Index: 14
Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome
Genes
2024/2/6
Társis Paiva Vieira
H-Index: 9
Maria Isabel Melaragno
H-Index: 14
Vera Lúcia Gil-Da-Silva-Lopes
H-Index: 15
X‐linked congenital adrenal hypoplasia: Report of long clinical follow‐up and description of a new complex variant in the NR0B1 gene
American Journal of Medical Genetics Part A
2024/1/19
Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism
2024/1/17
SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review
2023/4/8
Eleonore Pairet
H-Index: 1
Társis Paiva Vieira
H-Index: 9
Simone Appenzeller
H-Index: 32
Raphaël Helaers
H-Index: 11
Vera Lúcia Gil-Da-Silva-Lopes
H-Index: 15
Molecular investigation in Orofacial Clefts with Microphthalmia-Anophthalmia-Coloboma spectrum
2023/3/20
Vera Lúcia Gil-Da-Silva-Lopes
H-Index: 15
Eleonore Pairet
H-Index: 1
EFFECT OF TELENURSING ON THE ADAPTIVE PROCESS OF PEOPLE WITH INTESTINAL STOMA: CLINICAL TRIAL.
Revista Estima
2023/1/1
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low-and middle-income countries
2023/12/28
How are people with orofacial clefts attended in northwest region of São Paulo state, Brazil?
Genetics and Molecular Biology
2023/12/18
Vera Lúcia Gil-Da-Silva-Lopes
H-Index: 15
Comprehensive Insights into Health Services Accessibility and Quality of Life of Families with Individuals with 22q11. 2 Deletion Syndrome in Brazil
2023/12/8
Vera Lúcia Gil-Da-Silva-Lopes
H-Index: 15
Exploring Health Literacy in 22q11. 2 Deletion Syndrome: A Comprehensive Study on Access to Information, Teleorientation, and Social Media Engagement in Brazil
2023/12/8
Vera Lúcia Gil-Da-Silva-Lopes
H-Index: 15
Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum.
European Journal of Human Genetics: EJHG
2023/11/6
Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome
The Cleft Palate Craniofacial Journal
2023/5/14
Phenotypic heterogeneity in 22q11. 2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort
American Journal of Medical Genetics Part A
2023/5
Rare 15q21. 1q22. 31 Duplication Due to a Familial Chromosomal Insertion and Diagnostic Investigation in a Carrier of Balanced Chromosomal Rearrangement and Intellectual Disability
Genes
2023/4/9
Vera Lúcia Gil-Da-Silva-Lopes
H-Index: 15
Társis Paiva Vieira
H-Index: 9
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication
International Journal of Molecular Sciences
2022/12/28
Helena Fabbri-Scallet
H-Index: 5
Vera Lúcia Gil-Da-Silva-Lopes
H-Index: 15
Gil Guerra-Junior
H-Index: 23
Axel Künstner
H-Index: 20
Hauke Busch
H-Index: 28
Ralf Werner
H-Index: 9
Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review
2022/12/16
Vera Lúcia Gil-Da-Silva-Lopes
H-Index: 15
Társis Paiva Vieira
H-Index: 9
Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration
Clinical Genetics
2022/12
