UB Paderborn / Katalog / Suche / in CDI

Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome

Journal of applied genetics, 2017-11, Vol.58 (4), p.467-474

2017

Volltextzugriff (PDF)

Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases

European journal of neurology, 2020-08, Vol.27 (8), p.1493-1500

2020

Volltextzugriff (PDF)

Association analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes

Biology of sport, 2016-05, Vol.33 (3), p.199-206

2016

Volltextzugriff (PDF)

X‐linked juvenile retinoschisis: different mutations – same phenotype

Acta ophthalmologica (Oxford, England), 2017-09, Vol.95 (S259), p.n/a

2017

Volltextzugriff (PDF)

Stargardt disease phenotype‐genotype correlation – first results of a Lithuanian cohort study

Acta ophthalmologica (Oxford, England), 2016-10, Vol.94 (S256), p.n/a

2016

Volltextzugriff (PDF)

Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication

Balkan journal of medical genetics, 2018-10, Vol.21 (1), p.87-91

2018

Volltextzugriff (PDF)

Vilnius Declaration on chronic respiratory diseases: multisectoral care pathways embedding guided self‐management, mHealth and air pollution in chronic respiratory diseases

Clinical and translational allergy, 2019-01, Vol.9 (1), p.7-n/a, Article 7

2019

Volltextzugriff (PDF)

CAV3 gene sequence variations: National Genome Database and clinics

Acta neurologica Scandinavica, 2015-09, Vol.132 (3), p.185-190

2015

Volltextzugriff (PDF)

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

Balkan journal of medical genetics, 2016-12, Vol.19 (2), p.95-100

2016

Volltextzugriff (PDF)

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations

Clinical genetics, 2006-10, Vol.70 (4), p.330-335

2006

Volltextzugriff (PDF)

Female and male carriers of TAZ mutations need to be thoroughly investigated

Balkan journal of medical genetics, 2017-12, Vol.20 (2), p.91-93

2017

Volltextzugriff (PDF)

Correction to: Vilnius Declaration on chronic respiratory diseases: multisectoral care pathways embedding guided self‐management, mHealth and air pollution in chronic respiratory diseases

Clinical and translational allergy, 2020-11, Vol.10 (1), p.49-n/a, Article 49

2020

Volltextzugriff (PDF)

Two New de novo Interstitial Duplications Covering 2p14–p22.1: Clinical and Molecular Analysis

Cytogenetic and genome research, 2013-01, Vol.139 (1), p.52-58

2013

Volltextzugriff (PDF)

A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features

European journal of medical genetics, 2012-11, Vol.55 (11), p.656-659

2012

Volltextzugriff (PDF)

P.500 Do CYP2C19 polymorphisms predict treatment response to escitalopram in moderate and severe depressive disorder?

European neuropsychopharmacology, 2019-12, Vol.29, p.S350-S351

2019

Volltextzugriff (PDF)

Association between hair steroid hormone levels and cardiometabolic risk factors in a group of women participating in the national CVD prevention program: A cross-sectional study

Atherosclerosis, 2022-08, Vol.355, p.159

2022

Volltextzugriff (PDF)

Association of hair steroid hormone levels with habitual sleep quality in middle-aged and older women

Psychoneuroendocrinology, 2021-09, Vol.131, p.105495, Article 105495

2021

Volltextzugriff (PDF)

P-18 Genetic variants in myostatin gene and physical performance in lithuanian athletes

British journal of sports medicine, 2016-11, Vol.50 (Suppl 1), p.A41-A41

2016

Volltextzugriff (PDF)

CYP450 enzymes genetic polymorphism influence on treatment of affective disorders

European psychiatry, 2017-04, Vol.41 (S1), p.S167-S168

2017

Volltextzugriff (PDF)

Poor CYP2D6 and ultrarapid CYP2C19 metabolizer: Clinical challenge in psychiatric treatment

European psychiatry, 2017-04, Vol.41 (S1), p.S163-S163

2017

Volltextzugriff (PDF)

Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study

European journal of medical genetics, 2023-08, Vol.66 (8), p.104805-104805, Article 104805

2023

Volltextzugriff (PDF)

A Novel Intronic Splice Site Tafazzin Gene Mutation Detected Prenatally in a Family with Barth Syndrome

Balkan journal of medical genetics, 2016-12, Vol.19 (2), p.95-100

2016

Volltextzugriff (PDF)

Prenatal Detection of Congenital Renal Malformations by Fetal Ultrasonographic Examination: An Analysis of 709,030 Births in 12 European Countries

European journal of medical genetics, 2005-04, Vol.48 (2), p.131-144

2005

Volltextzugriff (PDF)

Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)

Journal of medical genetics, 1999-01, Vol.36 (1), p.73-76

1999

Volltextzugriff (PDF)

Recombinant chromosome 14 due to maternal pericentric inversion

Journal of applied genetics, 2008-01, Vol.49 (2), p.205-207

2008

Volltextzugriff (PDF)

Menü

Weitere Dienste

Einstellungen

Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome

Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases

Association analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes

X‐linked juvenile retinoschisis: different mutations – same phenotype

Stargardt disease phenotype‐genotype correlation – first results of a Lithuanian cohort study

Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication

Vilnius Declaration on chronic respiratory diseases: multisectoral care pathways embedding guided self‐management, mHealth and air pollution in chronic respiratory diseases

CAV3 gene sequence variations: National Genome Database and clinics

A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome

Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations

Female and male carriers of TAZ mutations need to be thoroughly investigated

Correction to: Vilnius Declaration on chronic respiratory diseases: multisectoral care pathways embedding guided self‐management, mHealth and air pollution in chronic respiratory diseases

Two New de novo Interstitial Duplications Covering 2p14–p22.1: Clinical and Molecular Analysis

A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features

P.500 Do CYP2C19 polymorphisms predict treatment response to escitalopram in moderate and severe depressive disorder?

Association between hair steroid hormone levels and cardiometabolic risk factors in a group of women participating in the national CVD prevention program: A cross-sectional study

Association of hair steroid hormone levels with habitual sleep quality in middle-aged and older women

P-18 Genetic variants in myostatin gene and physical performance in lithuanian athletes

CYP450 enzymes genetic polymorphism influence on treatment of affective disorders

Poor CYP2D6 and ultrarapid CYP2C19 metabolizer: Clinical challenge in psychiatric treatment

Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study

A Novel Intronic Splice Site Tafazzin Gene Mutation Detected Prenatally in a Family with Barth Syndrome

Prenatal Detection of Congenital Renal Malformations by Fetal Ultrasonographic Examination: An Analysis of 709,030 Births in 12 European Countries

Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)

Recombinant chromosome 14 due to maternal pericentric inversion

Suchergebnisse filtern