UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 66

Sortiert nach

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

BMC genomics, 2014-12, Vol.15 (1), p.1090-1090

2014

Volltextzugriff (PDF)

First Year of TREC-Based National SCID Screening in Sweden

International journal of neonatal screening, 2021-08, Vol.7 (3), p.59

2021

Volltextzugriff (PDF)

PARKIN is not required to sustain OXPHOS function in adult mammalian tissues

NPJ Parkinson's Disease, 2024-04, Vol.10 (1), p.93-93, Article 93

2024

Volltextzugriff (PDF)

Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics

JIMD reports, 2022-03, Vol.63 (2), p.181-190

2022

Volltextzugriff (PDF)

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

European journal of human genetics : EJHG, 2009-11, Vol.17 (11), p.1439-1447

2009

Volltextzugriff (PDF)

CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development

Fertility and sterility, 2013-03, Vol.99 (3), p.819-826.e3

2013

Volltextzugriff (PDF)

Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

Orphanet journal of rare diseases, 2013-01, Vol.8 (1), p.13-13, Article 13

2013

Volltextzugriff (PDF)

Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden

International journal of neonatal screening, 2017-06, Vol.3 (2), p.11

2017

Volltextzugriff (PDF)

Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

International Journal of Endocrinology, 2012-01, Vol.2012, p.504904-7

2012

Volltextzugriff (PDF)

Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects

International Journal of Endocrinology, 2016-01, Vol.2016, p.4209670-10

2016

Volltextzugriff (PDF)

Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study

Journal of clinical immunology, 2017-01, Vol.37 (1), p.51-60

2017

Volltextzugriff (PDF)

Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias

Reproductive biology and endocrinology, 2007-03, Vol.5 (1), p.8-8, Article 8

2007

Volltextzugriff (PDF)

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Genome medicine, 2021-03, Vol.13 (1), p.40-40, Article 40

2021

Volltextzugriff (PDF)

Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia

The Journal of steroid biochemistry and molecular biology, 2020-07, Vol.201, p.105699-105699, Article 105699

2020

Volltextzugriff (PDF)

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

American journal of human genetics, 2023-10, Vol.110 (10), p.1769-1786

2023

Volltextzugriff (PDF)

AGC1 Deficiency Associated with Global Cerebral Hypomyelination

The New England journal of medicine, 2009-07, Vol.361 (5), p.489-495

2009

Volltextzugriff (PDF)

Epigenetic Alterations Associated With Early Prenatal Dexamethasone Treatment

Journal of the Endocrine Society, 2019-01, Vol.3 (1), p.250-263

2019

Volltextzugriff (PDF)

Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing the DAX1 Gene

The journal of clinical endocrinology and metabolism, 2007-08, Vol.92 (8), p.3305-3313

2007

Volltextzugriff (PDF)

Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia

Clinical biochemistry, 2019-11, Vol.73, p.50-56

2019

Volltextzugriff (PDF)

Biotin and Thiamine Responsive Basal Ganglia Disease – A vital differential diagnosis in infants with severe encephalopathy

European journal of paediatric neurology, 2016-05, Vol.20 (3), p.457-461

2016

Volltextzugriff (PDF)

In vitro functional studies of rare CYP 21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

Clinical endocrinology (Oxford), 2015-01, Vol.82 (1), p.37-44

2015

Volltextzugriff (PDF)

Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform

European journal of medical genetics, 2013-12, Vol.56 (12), p.661-668

2013

Volltextzugriff (PDF)

Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia

Clinical genetics, 2012-08, Vol.82 (2), p.197-200

2012

Volltextzugriff (PDF)

Not All Amino Acid Substitutions of the Common Cluster E6 Mutation in CYP21 Cause Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2005-04, Vol.90 (4), p.2148-2153

2005

Volltextzugriff (PDF)

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms

European journal of human genetics : EJHG, 2008-07, Vol.16 (7), p.786-792

2008

Volltextzugriff (PDF)

1 – 25 von 66

Suche als RSS-Feed

Aktive Filter

ThemaChild

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(57)
Mit Volltextzugriff
(62)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(42)
Life Sciences & Biomedicine
(40)
Humans
(28)
Medicin Och Hälsovetenskap
(27)
Male
(18)
Female
(14)
Genetics & Heredity
(13)
Biological And Medical Sciences
(12)
Medical Sciences
(12)
Endocrinology & Metabolism
(9)
Adult
(8)
Patients
(8)
Pediatrics
(8)
Mutation
(7)
Fundamental And Applied Biological Sciences. Psychology
(6)
Genetics
(6)
Genomes
(6)
Medical Genetics
(5)
Medicine
(5)
Phenotype
(5)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

First Year of TREC-Based National SCID Screening in Sweden

PARKIN is not required to sustain OXPHOS function in adult mammalian tissues

Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development

Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden

Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects

Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study

Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

AGC1 Deficiency Associated with Global Cerebral Hypomyelination

Epigenetic Alterations Associated With Early Prenatal Dexamethasone Treatment

Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing the DAX1 Gene

Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia

Biotin and Thiamine Responsive Basal Ganglia Disease – A vital differential diagnosis in infants with severe encephalopathy

In vitro functional studies of rare CYP 21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform

Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia

Not All Amino Acid Substitutions of the Common Cluster E6 Mutation in CYP21 Cause Congenital Adrenal Hyperplasia

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms

Aktive Filter

Suchergebnisse filtern