UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 73

Sortiert nach

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Human molecular genetics, 2013-12, Vol.22 (25), p.5121-5135

2013

Volltextzugriff (PDF)

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

Journal of translational medicine, 2016-06, Vol.14 (1), p.174-174, Article 174

2016

Volltextzugriff (PDF)

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

BMC cancer, 2017-04, Vol.17 (1), p.239-11, Article 239

2017

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

Journal of applied genetics, 2021-09, Vol.62 (3), p.477-485

2021

Volltextzugriff (PDF)

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

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

2015

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Clinical heterogeneity of polish patients with KAT6B–related disorder

Molecular genetics & genomic medicine, 2023-12, Vol.11 (12), p.e2265-n/a

2023

Volltextzugriff (PDF)

Noninvasive prenatal testing of aneuploidies: where are we now?

Revista Brasileira de ginecologia e obstetrícia, 2014-09, Vol.36 (9), p.383-386

2014

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Genetic causes of syndromic craniosynostoses

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

2013

Volltextzugriff (PDF)

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1263-n/a

2020

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review

Taiwanese journal of obstetrics & gynecology, 2021-11, Vol.60 (6), p.1121-1125

2021

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Twelve novel JAG1 gene mutations in polish Alagille syndrome patients

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

2005

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

1 – 25 von 73

Suche als RSS-Feed

Aktive Filter

KollektionMEDLINE

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(69)
Mit Volltextzugriff
(63)

Publikationsform

Artikel
(73)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

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

Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson 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

Clinical heterogeneity of polish patients with KAT6B–related disorder

Noninvasive prenatal testing of aneuploidies: where are we now?

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

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5 , BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders

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

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

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

How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review

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

Twelve novel JAG1 gene mutations in polish Alagille syndrome patients

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

Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience

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

Aktive Filter

Suchergebnisse filtern