UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 42

Sortiert nach

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

PloS one, 2022-11, Vol.17 (11), p.e0268149-e0268149

2022

Volltextzugriff (PDF)

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.51-58

2016

Volltextzugriff (PDF)

Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications

Molecular genetics & genomic medicine, 2020-01, Vol.8 (1), p.e1013-n/a

2020

Volltextzugriff (PDF)

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

American journal of human genetics, 2017-11, Vol.101 (5), p.664-685

2017

Volltextzugriff (PDF)

Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

Journal of clinical sleep medicine, 2017-11, Vol.13 (11), p.1359-1362

2017

Volltextzugriff (PDF)

Pallister-Killian syndrome: a study of 22 British patients

Journal of medical genetics, 2015-07, Vol.52 (7), p.454-464

2015

Volltextzugriff (PDF)

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Nature genetics, 2015-11, Vol.47 (11), p.1363-1369

2015

Volltextzugriff (PDF)

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

Journal of medical genetics, 2016-03, Vol.53 (3), p.152-162

2016

Volltextzugriff (PDF)

Enhancing inclusion of diverse populations in genomics: A competence framework

Journal of genetic counseling, 2020-04, Vol.29 (2), p.282-292

2020

Volltextzugriff (PDF)

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

The Journal of clinical investigation, 2023-05, Vol.133 (10), p.1-16

2023

Volltextzugriff (PDF)

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

American journal of human genetics, 2023-11, Vol.110 (11), p.1919-1937

2023

Volltextzugriff (PDF)

A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype

Journal of clinical immunology, 2019-04, Vol.39 (3), p.249-256

2019

Volltextzugriff (PDF)

Cerebral hypomyelination associated with biallelic variants of FIG4

Human mutation, 2019-05, Vol.40 (5), p.619-630

2019

Volltextzugriff (PDF)

21q21 deletion involving NCAM2 : Report of 3 cases with neurodevelopmental disorders

European journal of medical genetics, 2015-01, Vol.58 (1), p.44-46

2015

Volltextzugriff (PDF)

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients

European journal of medical genetics, 2019-01, Vol.62 (1), p.27-34

2019

Volltextzugriff (PDF)

Anophthalmia in fronto-facial-nasal dysplasia

Clinical dysmorphology, 2011-04, Vol.20 (2), p.73

2011

Volltextzugriff (PDF)

Cerebral hypomyelination associated with biallelic variants of FIG4: LENK et al

Human mutation, 2019-05, Vol.40 (5), p.619-630

2019

Volltextzugriff (PDF)

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

Wellcome open research, 2018, Vol.3, p.46-46

2018

Volltextzugriff (PDF)

Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect

American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2764-2768

2014

Volltextzugriff (PDF)

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings

American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1115-1126

2016

Volltextzugriff (PDF)

Amniotic bands in paternal half-siblings

Clinical dysmorphology, 2010-04, Vol.19 (2), p.62

2010

Volltextzugriff (PDF)

RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations

Clinical dysmorphology, 2017-04, Vol.26 (2), p.101

2017

Volltextzugriff (PDF)

Phenotypic features of diploid/triploid mosaicism in an adult

Clinical dysmorphology, 2014-04, Vol.23 (2), p.56

2014

Volltextzugriff (PDF)

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum

Clinical dysmorphology, 2016-10, Vol.25 (4), p.135

2016

Volltextzugriff (PDF)

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

PloS one, 2022-01, Vol.17 (11)

2022

Volltextzugriff (PDF)

1 – 25 von 42

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(36)
Mit Volltextzugriff
(35)

Publikationsform

Sprache

Englisch
(42)
Japanisch
(3)

Erscheinungsjahr

n.n

Thema

Science & Technology
(29)
Life Sciences & Biomedicine
(28)
Humans
(27)
Genetics & Heredity
(21)
Female
(16)
Male
(16)
Child, Preschool
(12)
Child
(11)
Mutation
(10)
Phenotype
(10)
Infant
(7)
Adolescent
(6)
Intellectual Disabilities
(6)
Pedigree
(6)
Abnormalities, Multiple - Genetics
(5)
Developmental Disabilities - Genetics
(5)
Intellectual Disability - Genetics
(5)
Adult
(4)
Biological And Medical Sciences
(4)
Comparative Genomic Hybridization
(4)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate

Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

Pallister-Killian syndrome: a study of 22 British patients

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

Enhancing inclusion of diverse populations in genomics: A competence framework

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype

Cerebral hypomyelination associated with biallelic variants of FIG4

21q21 deletion involving NCAM2 : Report of 3 cases with neurodevelopmental disorders

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients

Anophthalmia in fronto-facial-nasal dysplasia

Cerebral hypomyelination associated with biallelic variants of FIG4: LENK et al

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings

Amniotic bands in paternal half-siblings

RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations

Phenotypic features of diploid/triploid mosaicism in an adult

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia

Suchergebnisse filtern