UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 140

Sortiert nach

PP01.1 – 2565: Next generation sequencing analysis in neonatal/early epileptic encephalopathy

European journal of paediatric neurology, 2015-05, Vol.19, p.S29-S29

2015

Volltextzugriff (PDF)

PP01.12 – 2602: Differential diagnosis of progressive myoclonic epilepsia: Five patients with Lafora disease

European journal of paediatric neurology, 2015-05, Vol.19, p.S32-S32

2015

Volltextzugriff (PDF)

PP12.11 – 2550: Atypical forms of 4H leukodystrophy

European journal of paediatric neurology, 2015-05, Vol.19, p.S80-S80

2015

Volltextzugriff (PDF)

Evidence that the wider social environment moderates the association between familial liability and psychosis spectrum outcome

Psychological medicine, 2012-12, Vol.42 (12), p.2499-2510

2012

Volltextzugriff (PDF)

In vitro gene manipulation of spinal muscular atrophy fibroblast cell line using gene-targeting fragment for restoration of SMN protein expression

Gene therapy, 2016-01, Vol.23 (1), p.10-17

2016

Volltextzugriff (PDF)

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

Scientific reports, 2016-08, Vol.6 (1), p.31622-31622, Article 31622

2016

Volltextzugriff (PDF)

Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families

Journal of endocrinological investigation, 2021-06, Vol.44 (6), p.1301-1307

2021

Volltextzugriff (PDF)

Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100732-100732, Article 100732

2021

Volltextzugriff (PDF)

Low levels of mannose-binding lectin confers protection against tuberculosis in Turkish children

European journal of clinical microbiology & infectious diseases, 2008-12, Vol.27 (12), p.1165-1169

2008

Volltextzugriff (PDF)

CONGENITAL ABSENCE OF THE PORTAL VEIN IN A CHILD WITH TURNER SYNDROME

Genetic counseling, 2015-01, Vol.26 (3), p.353

2015

Volltextzugriff (PDF)

No relationship between lipoprotein-associated phospholipase A2, proinflammatory cytokines, and neopterin in Alzheimer's disease

Experimental gerontology, 2016-05, Vol.77, p.1-6

2016

Volltextzugriff (PDF)

Successful treatment of hepatic and mesh Aspergillosis in a neonate with giant omphalocele

Journal de mycologie médicale, 2022-05, Vol.32 (2), p.101245, Article 101245

2022

Volltextzugriff (PDF)

THE SPECTRUM OF CLINICAL FEATURES ASSOCIATED WITH KLIPPEL-TRENAUNAY-WEBER SYNDROME

Genetic counseling, 2015-01, Vol.26 (2), p.249

2015

Volltextzugriff (PDF)

Subthreshold depression as a predictor of emergence and persistence of psychotic experiences: A six-year longitudinal population-based cohort

European psychiatry, 2016-03, Vol.33, p.S264-S264

2016

Volltextzugriff (PDF)

MEGALOCORNEA SHOULD BE INVESTIGATED IN CASES WITH HYPOTONIA AND MENTAL RETARDATION: NEUHAUSER SYNDROME--AN EASILY MISSED DIAGNOSIS

Genetic counseling, 2015, Vol.26 (4), p.443

2015

Volltextzugriff (PDF)

Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann–Pick disease patients: Mutation profile and description of a novel mutation

Gene, 2013-09, Vol.526 (2), p.484-486

2013

Volltextzugriff (PDF)

Assessment of Toll-like receptor-4 gene polymorphism on pyelonephritis and renal scar

International journal of immunogenetics, 2012-08, Vol.39 (4), p.303-307

2012

Volltextzugriff (PDF)

A six-year longitudinal population-based cohort for the extended psychosis phenotype: An epidemiological study of the gene-environment interactions (TürkSch)

European psychiatry, 2016-03, Vol.33 (S1), p.S237-S237

2016

Volltextzugriff (PDF)

Psychotic experiences, alcohol–cannabis abuse, stressful events and familial risk is associated with onset of clinical psychosis: Evidence from a 6-year longitudinal population-based cohort

European psychiatry, 2016-03, Vol.33 (S1), p.S216-S217

2016

Volltextzugriff (PDF)

TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION

Genetic counseling, 2015-01, Vol.26 (4), p.431

2015

Volltextzugriff (PDF)

558 Prader-Willi Syndrome Due to Maternal Uniparental Disomy following Assisted Reproductive Technology

Archives of disease in childhood, 2012-10, Vol.97 (Suppl 2), p.A162-A162

2012

Volltextzugriff (PDF)

Lack of association between catalase gene polymorphism (T/C exon 9) and susceptibility to vitiligo in a Turkish population

Genetics and molecular research, 2011-10, Vol.10 (4), p.4126-4132

2011

Volltextzugriff (PDF)

Lupus anticoagulant and protein S deficiency in otherwise healthy children with acute varicella infection

Acta Paediatrica, 2000-10, Vol.89 (10), p.1186-1189

2000

Volltextzugriff (PDF)

Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review

Journal of assisted reproduction and genetics, 2009-03, Vol.26 (2-3), p.119-122

2009

Volltextzugriff (PDF)

Effect of CYP2C9 and VKORC1 Gene Variants in Determining the Maintenance of Warfarin Dose and Complications in Patients With Left Ventricular Assist Device

The Journal of heart and lung transplantation, 2014-04, Vol.33 (4), p.S260-S261

2014

Volltextzugriff (PDF)

1 – 25 von 140

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(126)
Mit Volltextzugriff
(84)

Publikationsform

Artikel
(132)
Berichte
(8)

Sprache

Englisch
(140)
Japanisch
(4)

Erscheinungsjahr

n.n

Thema

Humans
(107)
Science & Technology
(99)
Life Sciences & Biomedicine
(98)
Female
(71)
Male
(57)
Genetics & Heredity
(54)
Child
(34)
Child, Preschool
(31)
Biological And Medical Sciences
(30)
Biotechnology & Applied Microbiology
(30)
Medical Sciences
(29)
Medicine, Research & Experimental
(27)
Research & Experimental Medicine
(27)
Adolescent
(26)
Medical Ethics
(26)
Pediatrics
(26)
Infant
(22)
Adult
(21)
Syndrome
(21)
Abnormalities, Multiple - Genetics
(18)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

PP01.1 – 2565: Next generation sequencing analysis in neonatal/early epileptic encephalopathy

PP01.12 – 2602: Differential diagnosis of progressive myoclonic epilepsia: Five patients with Lafora disease

PP12.11 – 2550: Atypical forms of 4H leukodystrophy

Evidence that the wider social environment moderates the association between familial liability and psychosis spectrum outcome

In vitro gene manipulation of spinal muscular atrophy fibroblast cell line using gene-targeting fragment for restoration of SMN protein expression

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families

Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations

Low levels of mannose-binding lectin confers protection against tuberculosis in Turkish children

CONGENITAL ABSENCE OF THE PORTAL VEIN IN A CHILD WITH TURNER SYNDROME

No relationship between lipoprotein-associated phospholipase A2, proinflammatory cytokines, and neopterin in Alzheimer's disease

Successful treatment of hepatic and mesh Aspergillosis in a neonate with giant omphalocele

THE SPECTRUM OF CLINICAL FEATURES ASSOCIATED WITH KLIPPEL-TRENAUNAY-WEBER SYNDROME

Subthreshold depression as a predictor of emergence and persistence of psychotic experiences: A six-year longitudinal population-based cohort

MEGALOCORNEA SHOULD BE INVESTIGATED IN CASES WITH HYPOTONIA AND MENTAL RETARDATION: NEUHAUSER SYNDROME--AN EASILY MISSED DIAGNOSIS

Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann–Pick disease patients: Mutation profile and description of a novel mutation

Assessment of Toll-like receptor-4 gene polymorphism on pyelonephritis and renal scar

A six-year longitudinal population-based cohort for the extended psychosis phenotype: An epidemiological study of the gene-environment interactions (TürkSch)

Psychotic experiences, alcohol–cannabis abuse, stressful events and familial risk is associated with onset of clinical psychosis: Evidence from a 6-year longitudinal population-based cohort

TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION

558 Prader-Willi Syndrome Due to Maternal Uniparental Disomy following Assisted Reproductive Technology

Lack of association between catalase gene polymorphism (T/C exon 9) and susceptibility to vitiligo in a Turkish population

Lupus anticoagulant and protein S deficiency in otherwise healthy children with acute varicella infection

Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review

Effect of CYP2C9 and VKORC1 Gene Variants in Determining the Maintenance of Warfarin Dose and Complications in Patients With Left Ventricular Assist Device

Suchergebnisse filtern