UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 87

Sortiert nach

Short Stature Associated with a Novel Heterozygous Mutation in the Insulin-Like Growth Factor 1 Gene

The journal of clinical endocrinology and metabolism, 2010-11, Vol.95 (11), p.E363-E367

2010

Volltextzugriff (PDF)

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome

European journal of pediatrics, 2017-02, Vol.176 (2), p.279-283

2017

Volltextzugriff (PDF)

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy

Journal of medical genetics, 2012-01, Vol.49 (1), p.37-40

2012

Volltextzugriff (PDF)

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

Journal of medical genetics, 2009-06, Vol.46 (6), p.412-417

2009

Volltextzugriff (PDF)

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

Clinical genetics, 2012-09, Vol.82 (3), p.248-255

2012

Volltextzugriff (PDF)

Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge

Cytogenetic and genome research, 2011-12, Vol.135 (3-4), p.222-227

2011

Volltextzugriff (PDF)

X-chromosome duplications in males with mental retardation: pathogenic or benign variants?

Clinical genetics, 2011-01, Vol.79 (1), p.71-78

2011

Volltextzugriff (PDF)

Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity

Hormone research in paediatrics, 2012-01, Vol.77 (5), p.320-333

2012

Volltextzugriff (PDF)

Pseudoisodicentric Xp Chromosome [46,X,psu idic(X)(q21.1)] and Its Effect on Growth and Pubertal Development

Hormone research in paediatrics, 2014-01, Vol.81 (6), p.416-421

2014

Volltextzugriff (PDF)

A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activation

European journal of endocrinology, 2012-04, Vol.166 (4), p.743

2012

Volltextzugriff (PDF)

Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients

Haemophilia : the official journal of the World Federation of Hemophilia, 2015-05, Vol.21 (3), p.e237-e239

2015

Volltextzugriff (PDF)

A Subtle Familial Translocation t(3;21)(p26.3;q22.3): An Apparently Healthy Boy with a 3p Deletion and 21q Duplication

Cytogenetic and genome research, 2010-06, Vol.128 (4), p.245-249

2010

Volltextzugriff (PDF)

The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein

Growth hormone & IGF research, 2011-02, Vol.21 (1), p.44-50

2011

Volltextzugriff (PDF)

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

European journal of medical genetics, 2009-03, Vol.52 (2), p.77-87

2009

Volltextzugriff (PDF)

P1785Whole exome sequencing unravels new genes associated with mitral valve prolapse

European heart journal, 2019-10, Vol.40 (Supplement_1)

2019

Volltextzugriff (PDF)

An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection

Clinical genetics, 2013-04, Vol.83 (4), p.337-344

2013

Volltextzugriff (PDF)

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

European journal of medical genetics, 2012-06, Vol.55 (6), p.404-413

2012

Volltextzugriff (PDF)

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset -thalassemia major

Haematologica (Roma), 2013-05, Vol.98 (5), p.691-695

2013

Volltextzugriff (PDF)

Four new colon cancer susceptibility loci, Scc6 to Scc9 in the mouse

Cancer research (Chicago, Ill.), 1999-09, Vol.59 (17), p.4216-4218

1999

Volltextzugriff (PDF)

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals: Emerging Microdeletion and Microduplication Syndromes

European journal of medical genetics, 2009, Vol.52 (2-3), p.77-87

2009

Volltextzugriff (PDF)

Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients

Haemophilia : the official journal of the World Federation of Hemophilia, 2015, Vol.21 (3), p.e237-e239

2015

Volltextzugriff (PDF)

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Nature genetics, 2012-12, Vol.44 (12), p.1375-1381

2012

Volltextzugriff (PDF)

From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care

Genetics in medicine, 2019-10, Vol.21 (10), p.2303-2310

2019

Volltextzugriff (PDF)

1 – 25 von 87

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(84)
Mit Volltextzugriff
(81)

Publikationsform

Artikel
(85)
Berichte
(2)

Sprache

Englisch
(87)
Japanisch
(11)

Erscheinungsjahr

n.n

Thema

Science & Technology
(74)
Life Sciences & Biomedicine
(73)
Humans
(68)
Genetics & Heredity
(52)
Male
(46)
Female
(39)
Child
(30)
Phenotype
(25)
Child, Preschool
(24)
Intellectual Disability - Genetics
(24)
Adult
(23)
Adolescent
(20)
Mutation
(20)
Biological And Medical Sciences
(19)
Infant
(18)
Medical Sciences
(17)
Fundamental And Applied Biological Sciences. Psychology
(16)
Genetics Of Eukaryotes. Biological And Molecular Evolution
(15)
Chromosome Deletion
(13)
Intellectual Disabilities
(13)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Short Stature Associated with a Novel Heterozygous Mutation in the Insulin-Like Growth Factor 1 Gene

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge

X-chromosome duplications in males with mental retardation: pathogenic or benign variants?

Genetic Analysis of Short Children with Apparent Growth Hormone Insensitivity

Pseudoisodicentric Xp Chromosome [46,X,psu idic(X)(q21.1)] and Its Effect on Growth and Pubertal Development

A mosaic de novo duplication of 17q21-25 is associated with GH insensitivity, disturbed in vitro CD28-mediated signaling, and decreased STAT5B, PI3K, and NF-κB activation

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients

A Subtle Familial Translocation t(3;21)(p26.3;q22.3): An Apparently Healthy Boy with a 3p Deletion and 21q Duplication

The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

P1785Whole exome sequencing unravels new genes associated with mitral valve prolapse

An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset -thalassemia major

Four new colon cancer susceptibility loci, Scc6 to Scc9 in the mouse

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals: Emerging Microdeletion and Microduplication Syndromes

Risk of erroneous results in carrier testing for haemophilia A without prior DNA analysis in male index patients

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care

Suchergebnisse filtern