UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 94

Sortiert nach

Diversity, inclusion and equity in medical genetics: The time is now

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2817-2819

2020

Link zum Volltext

Verfügbarkeit prüfen

Central 22q11.2 deletion (LCR22 B‐D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.3042-3047

2021

Link zum Volltext

Verfügbarkeit prüfen

Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization

American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.894-900

2021

Link zum Volltext

Verfügbarkeit prüfen

Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions

Prenatal diagnosis, 2024-02, Vol.44 (2), p.237-246

2024

Link zum Volltext

Verfügbarkeit prüfen

14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients

American journal of medical genetics. Part A, 2021-05, Vol.185 (5), p.1519-1524

2021

Link zum Volltext

Verfügbarkeit prüfen

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2829-2834

2018

Link zum Volltext

Verfügbarkeit prüfen

The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service

Autism research, 2020-09, Vol.13 (9), p.1450-1464

2020

Link zum Volltext

Verfügbarkeit prüfen

Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10

American journal of medical genetics. Part A, 2014-06, Vol.164A (6), p.1512-1519

2014

Link zum Volltext

Verfügbarkeit prüfen

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

Genetics in medicine, 2011-07, Vol.13 (7), p.680-685

2011

Link zum Volltext

Verfügbarkeit prüfen

Clinical exome sequencing for genetic identification of rare Mendelian disorders

JAMA : the journal of the American Medical Association, 2014-11, Vol.312 (18), p.1880

2014

Link zum Volltext

Verfügbarkeit prüfen

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia

JAMA neurology, 2014-10, Vol.71 (10), p.1237

2014

Link zum Volltext

Verfügbarkeit prüfen

Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: Case report and review

American journal of medical genetics. Part A, 2010-10, Vol.152A (10), p.2459-2467

2010

Link zum Volltext

Verfügbarkeit prüfen

Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation

BMC medical genomics, 2023-03, Vol.16 (1), p.65-65, Article 65

2023

Link zum Volltext

Verfügbarkeit prüfen

Familial Microdeletion of 17q24.3 Upstream of SOX9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect

American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1167-1172

2013

Link zum Volltext

Verfügbarkeit prüfen

Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1

Genes, 2023-03, Vol.14 (3), p.676

2023

Link zum Volltext

Verfügbarkeit prüfen

P836: A framework and implementation of the Association of Professors of Human and Medical Genetics updated core competencies for medical school

Genetics in Medicine Open, 2024, Vol.2, p.101747

2024

Link zum Volltext

Verfügbarkeit prüfen

Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome

American journal of medical genetics. Part A, 2014-12, Vol.164A (12), p.3076-3082

2014

Link zum Volltext

Verfügbarkeit prüfen

P109: Identification of new fusion partners for ETV6 gene in hematologic malignancy by next generation sequencing (NGS)

Genetics in Medicine Open, 2024, Vol.2, p.100990

2024

Link zum Volltext

Verfügbarkeit prüfen

Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry

American journal of medical genetics. Part A, 2013-08, Vol.161A (8), p.1985-1991

2013

Link zum Volltext

Verfügbarkeit prüfen

P091: Unfavorable disease progression in patients with chronic myeloid leukemia and concurrent t(6;9) translocation (DEK-NUP214 fusion) or inversion 16

Genetics in Medicine Open, 2023, Vol.1 (1), p.100110, Article 100110

2023

Link zum Volltext

Verfügbarkeit prüfen

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

BMC medical genetics, 2014-05, Vol.15 (1), p.49-49, Article 49

2014

Link zum Volltext

Verfügbarkeit prüfen

O43: Characterization of the prenatal renal phenotype associated with 17q12/HNF1B microdeletions

Genetics in Medicine Open, 2023, Vol.1 (1), p.100650, Article 100650

2023

Link zum Volltext

Verfügbarkeit prüfen

First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities

American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1773-1778

2013

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 94

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(80)
Mit Volltextzugriff
(92)

Publikationsform

Artikel
(84)
Berichte
(10)

Sprache

Englisch
(94)
Japanisch
(9)

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(58)
Science & Technology
(58)
Humans
(53)
Genetics & Heredity
(51)
Female
(35)
Male
(29)
Child
(16)
Adult
(15)
Infant
(15)
Phenotype
(15)
Abnormalities, Multiple - Genetics
(12)
Chromosome Deletion
(12)
Child, Preschool
(11)
In Situ Hybridization, Fluorescence
(10)
Intellectual Disability - Genetics
(10)
Adolescent
(9)
Biological And Medical Sciences
(9)
Chromosome Aberrations
(9)
Genetics
(9)
Infant, Newborn
(9)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Diversity, inclusion and equity in medical genetics: The time is now

Central 22q11.2 deletion (LCR22 B‐D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome

Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization

Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions

14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis

The Feasibility and Outcomes of Genetic Testing for Autism and Neurodevelopmental Disorders on an Inpatient Child and Adolescent Psychiatry Service

Phenotypic variability in Waardenburg syndrome resulting from a 22q12.3-q13.1 microdeletion involving SOX10

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

Clinical exome sequencing for genetic identification of rare Mendelian disorders

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: Case report and review

Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation

Familial Microdeletion of 17q24.3 Upstream of SOX9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect

Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1

P836: A framework and implementation of the Association of Professors of Human and Medical Genetics updated core competencies for medical school

Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome

P109: Identification of new fusion partners for ETV6 gene in hematologic malignancy by next generation sequencing (NGS)

Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry

P091: Unfavorable disease progression in patients with chronic myeloid leukemia and concurrent t(6;9) translocation (DEK-NUP214 fusion) or inversion 16

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing

O43: Characterization of the prenatal renal phenotype associated with 17q12/HNF1B microdeletions

First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects

Suchergebnisse filtern