UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 178

Sortiert nach

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

American journal of human genetics, 2016-10, Vol.99 (4), p.934-941

2016

Volltextzugriff (PDF)

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Bone (New York, N.Y.), 2020-04, Vol.133, p.115219-115219, Article 115219

2020

Volltextzugriff (PDF)

Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos

Anatomical record (Hoboken, N.J. : 2007), 2018-06, Vol.301 (6), p.973-986

2018

Volltextzugriff (PDF)

Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation

Stem cell research, 2020-07, Vol.46, p.101823, Article 101823

2020

Volltextzugriff (PDF)

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly

Congenital anomalies, 2018-01, Vol.58 (1), p.29-32

2018

Volltextzugriff (PDF)

Molecular testing in holoprosencephaly

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-06, Vol.178 (2), p.187-193

2018

Volltextzugriff (PDF)

Low-level parental mosaicism affects the recurrence risk of holoprosencephaly

Genetics in medicine, 2019-04, Vol.21 (4), p.1015-1020

2019

Volltextzugriff (PDF)

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

American journal of human genetics, 2019-05, Vol.104 (5), p.990-993

2019

Volltextzugriff (PDF)

An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility

Biological psychiatry (1969), 2016-12, Vol.80 (12), p.943-954

2016

Volltextzugriff (PDF)

Novel heterozygous variants in KMT2D associated with holoprosencephaly

Clinical genetics, 2019-09, Vol.96 (3), p.266-270

2019

Volltextzugriff (PDF)

AP-1 stimulates the cathepsin K promoter in RAW 264.7 cells

Gene, 2007-11, Vol.403 (1), p.151-158

2007

Volltextzugriff (PDF)

Cohesin complex-associated holoprosencephaly

Brain (London, England : 1878), 2019-09, Vol.142 (9), p.2631-2643

2019

Volltextzugriff (PDF)

Neural Plasticity in Obesity and Psychiatric Disorders

Neural plasticity, 2016-01, Vol.2016, p.6053871-3

2016

Volltextzugriff (PDF)

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-06, Vol.178 (2), p.246-257

2018

Volltextzugriff (PDF)

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature

American journal of medical genetics. Part A, 2015-11, Vol.167A (11), p.2657-2663

2015

Volltextzugriff (PDF)

Machine Learning Prediction of ADHD Severity: Association and Linkage to ADGRL3, DRD4, and SNAP25

Journal of attention disorders, 2022-02, Vol.26 (4), p.587-605

2022

Volltextzugriff (PDF)

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects

Journal of medical genetics, 2017-12, Vol.54 (12), p.825

2017

Volltextzugriff (PDF)

Human Germline Hedgehog Pathway Mutations Predispose to Fatty Liver

Journal of hepatology, 2017-10, Vol.67 (4), p.809-817

2017

Volltextzugriff (PDF)

Analysis of renal anomalies in VACTERL association

Birth defects research. A Clinical and molecular teratology, 2014-10, Vol.100 (10), p.801-805

2014

Volltextzugriff (PDF)

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population

European journal of medical genetics, 2020-02, Vol.63 (2), p.103643-103643, Article 103643

2020

Volltextzugriff (PDF)

From the black widow spider to human behavior: Latrophilins, a relatively unknown class of G protein-coupled receptors, are implicated in psychiatric disorders

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2011-01, Vol.156B (1), p.1-10

2011

Volltextzugriff (PDF)

Identification of NFAT binding sites that mediate stimulation of cathepsin K promoter activity by RANK ligand

Gene, 2009-10, Vol.446 (2), p.90-98

2009

Volltextzugriff (PDF)

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Journal of medical genetics, 2015-02, Vol.52 (2), p.104-110

2015

Volltextzugriff (PDF)

Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa

Circulation. Genomic and precision medicine, 2021-02, Vol.14 (1), p.e003108-e003108

2021

Volltextzugriff (PDF)

1 – 25 von 178

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(154)
Mit Volltextzugriff
(171)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(129)
Life Sciences & Biomedicine
(71)
Technology
(53)
Humans
(50)
Computer Science
(49)
Computer Science, Artificial Intelligence
(46)
Computer Science, Theory & Methods
(45)
Female
(34)
Computer Science, Information Systems
(33)
Male
(33)
Genetics & Heredity
(20)
Animals
(15)
Child
(15)
Adolescent
(12)
Artificial Intelligence
(12)
Adult
(11)
Applied Sciences
(11)
Exact Sciences And Technology
(11)
Holoprosencephaly
(11)
Aged
(10)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Clinical and Demographic Evaluation of a Holoprosencephaly Cohort From the Kyoto Collection of Human Embryos

Generation of human induced pluripotent stem cell line (NIDCRi001-A) from a Muenke syndrome patient with an FGFR3 p.Pro250Arg mutation

SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly

Molecular testing in holoprosencephaly

Low-level parental mosaicism affects the recurrence risk of holoprosencephaly

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

An Ultraconserved Brain-Specific Enhancer Within ADGRL3 (LPHN3) Underpins Attention-Deficit/Hyperactivity Disorder Susceptibility

Novel heterozygous variants in KMT2D associated with holoprosencephaly

AP-1 stimulates the cathepsin K promoter in RAW 264.7 cells

Cohesin complex-associated holoprosencephaly

Neural Plasticity in Obesity and Psychiatric Disorders

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations

Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature

Machine Learning Prediction of ADHD Severity: Association and Linkage to ADGRL3, DRD4, and SNAP25

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects

Human Germline Hedgehog Pathway Mutations Predispose to Fatty Liver

Analysis of renal anomalies in VACTERL association

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population

From the black widow spider to human behavior: Latrophilins, a relatively unknown class of G protein-coupled receptors, are implicated in psychiatric disorders

Identification of NFAT binding sites that mediate stimulation of cathepsin K promoter activity by RANK ligand

Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome

Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa

Suchergebnisse filtern