UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 94

Sortiert nach

Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

American journal of human genetics, 2015-05, Vol.96 (5), p.709-719

2015

Volltextzugriff (PDF)

Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders

American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1565-1569

2019

Volltextzugriff (PDF)

Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome

The Journal of pediatrics, 2017-02, Vol.181, p.261-266

2017

Volltextzugriff (PDF)

Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder

The Journal of pediatrics, 2018-05, Vol.196, p.270-274.e1

2018

Volltextzugriff (PDF)

P321: Atypical presentation of vascular Ehlers-Danlos syndrome (vEDS)

Genetics in Medicine Open, 2024, Vol.2, p.101215, Article 101215

2024

Volltextzugriff (PDF)

Prenatal and Postnatal Genetic Testing: Why, How, and When?

Pediatric annals, 2017-11, Vol.46 (11), p.e423

Stoler, Joan M

2017

Volltextzugriff (PDF)

Recent developments in fetal alcohol spectrum disorder

Current opinion in endocrinology, diabetes, and obesity, 2020-02, Vol.27 (1), p.77

2020

Volltextzugriff (PDF)

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

American journal of human genetics, 2024-04, Vol.111 (4), p.761-777

2024

Volltextzugriff (PDF)

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Neurology, 2013-10, Vol.81 (16), p.1378

2013

Volltextzugriff (PDF)

Leukodystrophies in Children: Diagnosis, Care, and Treatment

Pediatrics (Evanston), 2021-09, Vol.148 (3), p.1

2021

Volltextzugriff (PDF)

Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications

Journal of allergy and clinical immunology, 2012-01, Vol.129 (1), p.251-254.e6

2012

Volltextzugriff (PDF)

Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Pediatrics (Evanston), 2021-01, Vol.147 (1), p.1

2021

Volltextzugriff (PDF)

Pulmonary Vasculopathy Associated with FIGF Gene Mutation

The American journal of pathology, 2017-01, Vol.187 (1), p.25-32

2017

Volltextzugriff (PDF)

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

American journal of medical genetics. Part A, 2016-02, Vol.170A (2), p.435-440

2016

Volltextzugriff (PDF)

Progressive Postnatal Pansynostosis

The Cleft palate-craniofacial journal, 2015-11, Vol.52 (6), p.751-757

2015

Volltextzugriff (PDF)

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy

American journal of medical genetics. Part A, 2015-08, Vol.167A (8), p.1747-1757

2015

Volltextzugriff (PDF)

Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about

Case reports in pediatrics, 2013-01, Vol.2013, p.764659-5

2013

Volltextzugriff (PDF)

Whole Exome Sequencing Reveals a Novel Mutation in CUL7 in a Patient with an Undiagnosed Growth Disorder

The Journal of pediatrics, 2013-01, Vol.162 (1), p.202-204.e1

2013

Volltextzugriff (PDF)

FOXE3 plays a significant role in autosomal recessive microphthalmia

American journal of medical genetics. Part A, 2010-03, Vol.152A (3), p.582-590

2010

Volltextzugriff (PDF)

Alcohol dehydrogenase 1B genotype and fetal alcohol syndrome: a HuGE minireview

American journal of obstetrics and gynecology, 2007-07, Vol.197 (1), p.12-25

2007

Volltextzugriff (PDF)

Bupropion in pregnancy and the prevalence of congenital malformations

Pharmacoepidemiology and drug safety, 2007-05, Vol.16 (5), p.474-484

2007

Volltextzugriff (PDF)

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-06, Vol.153B (4), p.937-947

2010

Volltextzugriff (PDF)

Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1400-1405

2015

Volltextzugriff (PDF)

1 – 25 von 94

Suche als RSS-Feed

Aktive Filter

PublikationsformBerichte

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(75)
Mit Volltextzugriff
(80)

Publikationsform

Sprache

Englisch
(94)
Japanisch
(14)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders

Musculoskeletal Conditions in a Pediatric Population with Ehlers-Danlos Syndrome

Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder

P321: Atypical presentation of vascular Ehlers-Danlos syndrome (vEDS)

Prenatal and Postnatal Genetic Testing: Why, How, and When?

Recent developments in fetal alcohol spectrum disorder

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Leukodystrophies in Children: Diagnosis, Care, and Treatment

Congenital malformations among infants born to women receiving montelukast, inhaled corticosteroids, and other asthma medications

Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Pulmonary Vasculopathy Associated with FIGF Gene Mutation

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

Progressive Postnatal Pansynostosis

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy

Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about

Whole Exome Sequencing Reveals a Novel Mutation in CUL7 in a Patient with an Undiagnosed Growth Disorder

FOXE3 plays a significant role in autosomal recessive microphthalmia

Alcohol dehydrogenase 1B genotype and fetal alcohol syndrome: a HuGE minireview

Bupropion in pregnancy and the prevalence of congenital malformations

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype

Aktive Filter

Suchergebnisse filtern