UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 27

Sortiert nach

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2

Journal of bone and mineral research, 2018-04, Vol.33 (4), p.753-760

2018

Link zum Volltext

Verfügbarkeit prüfen

Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics

American journal of medical genetics. Part A, 2021-05, Vol.185 (5), p.1561-1568

2021

Link zum Volltext

Verfügbarkeit prüfen

Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome

Molecular syndromology, 2015-07, Vol.6 (2), p.87-90

2015

Link zum Volltext

Verfügbarkeit prüfen

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Molecular syndromology, 2016-04, Vol.7 (1), p.12-18

2016

Link zum Volltext

Verfügbarkeit prüfen

A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis

Current obesity reports, 2024-01

2024

Link zum Volltext

Verfügbarkeit prüfen

Rothmund-Thomson syndrome, a disorder far from solved

Frontiers in aging, 2023-11, Vol.4, p.1296409-1296409

2023

Link zum Volltext

Verfügbarkeit prüfen

Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool

Arquivos de neuro-psiquiatria, 2021-11, Vol.79 (11), p.950-956

2021

Link zum Volltext

Verfügbarkeit prüfen

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

Molecular cytogenetics, 2018-02, Vol.11 (1), p.14-14, Article 14

2018

Link zum Volltext

Verfügbarkeit prüfen

Alteracoes comportamentais na Sindrome de Noonan: dados preliminares brasileiros

Revista latinoamericana de psicología, 2010-01, Vol.42 (1), p.87-95

2010

Link zum Volltext

Verfügbarkeit prüfen

Corrigendum to “Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA”

BioMed research international, 2015-01, Vol.2015, p.568047-1

2015

Link zum Volltext

Verfügbarkeit prüfen

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort

Genes, 2016-11, Vol.7 (11), p.96-96

2016

Link zum Volltext

Verfügbarkeit prüfen

Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication

International journal of molecular and cellular medicine, 2020-01, Vol.9 (4), p.296-306

2020

Link zum Volltext

Verfügbarkeit prüfen

Infantile autism and 47,XYY karyotype Autismo infantil e cariótipo 47,XYY

Arquivos de neuro-psiquiatria, 2009-09, Vol.67 (3a), p.717-718

2009

Link zum Volltext

Verfügbarkeit prüfen

Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II

Clinics (São Paulo, Brazil), 2022-01, Vol.77, p.100082-100082, Article 100082

2022

Link zum Volltext

Verfügbarkeit prüfen

Infantile autism and 47,XYY karyotype

Arquivos de neuro-psiquiatria, 2009-09, Vol.67 (3a), p.717-718

2009

Link zum Volltext

Verfügbarkeit prüfen

A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation

Pediatric blood & cancer, 2023, Vol.70 (7), p.e30311-e30311

2023

Link zum Volltext

Verfügbarkeit prüfen

Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics

American journal of medical genetics. Part A, 2021, Vol.185 (5), p.1561-1568

2021

Link zum Volltext

Verfügbarkeit prüfen

Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome

American journal of medical genetics. Part A, 2021, Vol.185 (12), p.3916-3923

2021

Link zum Volltext

Verfügbarkeit prüfen

Microdeletion 11q13.1.q13.2 in a patient presenting with developmental delay, facial dysmorphism, and esophageal atresia: Possible role of the GSTP1 gene in esophagus malformation

Birth Defects Research Part A: Clinical and Molecular Teratology, 2013, Vol.97 (7), p.463-466

2013

Link zum Volltext

Verfügbarkeit prüfen

Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome

Molecular syndromology, 2015, Vol.6 (2), p.87-90

2015

Link zum Volltext

Verfügbarkeit prüfen

Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant

American journal of medical genetics. Part A, 2021, Vol.185 (10), p.3099-3103

2021

Link zum Volltext

Verfügbarkeit prüfen

Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases

American journal of medical genetics. Part A, 2022, Vol.188 (2), p.676-682

2022

Link zum Volltext

Verfügbarkeit prüfen

Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma

Pediatric blood & cancer, 2020, Vol.67 (11), p.e28376-e28376

2020

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 27

Suche als RSS-Feed

Aktive Filter

ThemaHumans

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(16)
Mit Volltextzugriff
(27)

Publikationsform

Artikel
(18)
Berichte
(9)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2

Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics

Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport

Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome

Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis

Rothmund-Thomson syndrome, a disorder far from solved

Nationwide questionnaire data of 229 Williams-Beuren syndrome patients using WhatsApp tool

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

Alteracoes comportamentais na Sindrome de Noonan: dados preliminares brasileiros

Corrigendum to “Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA”

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort

Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication

Infantile autism and 47,XYY karyotype Autismo infantil e cariótipo 47,XYY

Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II

Infantile autism and 47,XYY karyotype

A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation

Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics

Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome

Microdeletion 11q13.1.q13.2 in a patient presenting with developmental delay, facial dysmorphism, and esophageal atresia: Possible role of the GSTP1 gene in esophagus malformation

Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome

Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant

Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases

Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma

Aktive Filter

Suchergebnisse filtern