UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 54

Sortiert nach

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

Pediatric nephrology (Berlin, West), 2015-06, Vol.30 (6), p.931-943

2015

Link zum Volltext

Verfügbarkeit prüfen

11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency

Pediatrics international, 2015-06, Vol.57 (3), p.486-491

2015

Link zum Volltext

Verfügbarkeit prüfen

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review

American journal of medical genetics. Part A, 2013-01, Vol.161 (1), p.172-178

2013

Link zum Volltext

Verfügbarkeit prüfen

Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype

American journal of medical genetics. Part A, 2012-04, Vol.158A (4), p.922-926

2012

Link zum Volltext

Verfügbarkeit prüfen

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.373-377

2010

Link zum Volltext

Verfügbarkeit prüfen

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.185-195

2011

Link zum Volltext

Verfügbarkeit prüfen

Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients

Acta neuropathologica, 2010-03, Vol.119 (3), p.325-334

2010

Link zum Volltext

Verfügbarkeit prüfen

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.241-248

2010

Link zum Volltext

Verfügbarkeit prüfen

Genetic causes of syndromic craniosynostoses

European journal of paediatric neurology, 2013-05, Vol.17 (3), p.221-224

2013

Link zum Volltext

Verfügbarkeit prüfen

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single family

American journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.72-78

2017

Link zum Volltext

Verfügbarkeit prüfen

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene

Clinical dysmorphology, 2020-01, Vol.29 (1), p.28

2020

Link zum Volltext

Verfügbarkeit prüfen

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

American journal of medical genetics. Part A, 2016-06, Vol.170A (6), p.1647-1650

2016

Link zum Volltext

Verfügbarkeit prüfen

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

European journal of paediatric neurology, 2016-05, Vol.20 (3), p.462-473

2016

Link zum Volltext

Verfügbarkeit prüfen

Twelve novel JAG1 gene mutations in polish Alagille syndrome patients

Human mutation, 2005-03, Vol.25 (3), p.321-321

2005

Link zum Volltext

Verfügbarkeit prüfen

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype

Clinical dysmorphology, 2019-07, Vol.28 (3), p.126

2019

Link zum Volltext

Verfügbarkeit prüfen

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

American journal of medical genetics. Part A, 2014-10, Vol.164A (10), p.2541-2550

2014

Link zum Volltext

Verfügbarkeit prüfen

Molecular investigations of mitochondrial deletions: Evaluating the usefulness of different genetic tests

Gene, 2012-09, Vol.506 (1), p.161-165

2012

Link zum Volltext

Verfügbarkeit prüfen

A girl with two syndromes: Turner syndrome and Costello syndrome. A case history

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1486-1488

2012

Link zum Volltext

Verfügbarkeit prüfen

Four novel RSK2 mutations in females with Coffin–Lowry syndrome

European journal of medical genetics, 2010-09, Vol.53 (5), p.268-273

2010

Link zum Volltext

Verfügbarkeit prüfen

Cryptic X; Autosome Translocation in a Boy—Delineation of the Phenotype

Pediatric neurology, 2011-03, Vol.44 (3), p.221-224

2011

Link zum Volltext

Verfügbarkeit prüfen

The frequency of NBN molecular variants in pediatric astrocytic tumors

Journal of neuro-oncology, 2010, Vol.96 (2), p.161-168

2010

Link zum Volltext

Verfügbarkeit prüfen

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Human mutation, 2013-11, Vol.34 (11), p.1519-1528

2013

Link zum Volltext

Verfügbarkeit prüfen

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

Clinical dysmorphology, 2012-04, Vol.21 (2), p.97

2012

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 54

Suche als RSS-Feed

Aktive Filter

KollektionEZB Electronic Journals Library

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(47)
Mit Volltextzugriff
(46)

Publikationsform

Artikel
(50)
Berichte
(4)

Sprache

Englisch
(54)
Japanisch
(8)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

11p15 duplication and 13q34 deletion with Beckwith–Wiedemann syndrome and factor VII deficiency

1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review

Minimal clinical findings in a patient with 15qter microdeletion syndrome: Delineation of the associated phenotype

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients

Differences between predicted and established diagnoses of Smith-Lemli-Opitz syndrome in the Polish population: underdiagnosis or loss of affected fetuses?

Genetic causes of syndromic craniosynostoses

A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single family

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene

Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis—The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

Twelve novel JAG1 gene mutations in polish Alagille syndrome patients

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype

The first case of a patient with de novo partial distal 16q tetrasomy and a data's review

Molecular investigations of mitochondrial deletions: Evaluating the usefulness of different genetic tests

A girl with two syndromes: Turner syndrome and Costello syndrome. A case history

Four novel RSK2 mutations in females with Coffin–Lowry syndrome

Cryptic X; Autosome Translocation in a Boy—Delineation of the Phenotype

The frequency of NBN molecular variants in pediatric astrocytic tumors

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

Aktive Filter

Suchergebnisse filtern