UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Molecular psychiatry, 2016-01, Vol.21 (1), p.126-132

2016

Volltextzugriff (PDF)

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Journal of medical genetics, 2009-04, Vol.46 (4), p.223-232

2009

Volltextzugriff (PDF)

De novo SCN1A mutations in migrating partial seizures of infancy

Neurology, 2011-07, Vol.77 (4), p.380-383

2011

Volltextzugriff (PDF)

Genetic investigations of the epileptic encephalopathies: Recent advances

Progress in brain research, 2016, Vol.226, p.35-60

2016

Volltextzugriff (PDF)

The complex structure and dynamic evolution of human subtelomeres

Nature reviews. Genetics, 2002-02, Vol.3 (2), p.91-102

2002

Volltextzugriff (PDF)

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Journal of medical genetics, 2009-08, Vol.46 (8), p.511-523

2009

Volltextzugriff (PDF)

Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

Journal of medical genetics, 2010-09, Vol.47 (9), p.601-607

2010

Volltextzugriff (PDF)

Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2

European journal of paediatric neurology, 2017-06, Vol.21, p.e194-e194

2017

Volltextzugriff (PDF)

A roadmap for precision medicine in the epilepsies

Lancet neurology, 2015-12, Vol.14 (12), p.1219-1228

Anon

2015

Volltextzugriff (PDF)

BRCA2 in American families with four or more cases of breast or ovarian cancer: Recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2

American journal of human genetics, 1997-05, Vol.60 (5), p.1031-1040

1997

Volltextzugriff (PDF)

Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

American journal of human genetics, 2007-11, Vol.81 (5), p.1057-1069

2007

Volltextzugriff (PDF)

Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes

Human molecular genetics, 2001-10, Vol.10 (21), p.2363-2372

2001

Volltextzugriff (PDF)

Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era

Genetics in medicine, 2009-12, Vol.11 (12), p.836-842

Mefford, Heather C

2009

Volltextzugriff (PDF)

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

Genetics in medicine, 2010-10, Vol.12 (10), p.641-647

2010

Volltextzugriff (PDF)

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

American journal of human genetics, 2018-11, Vol.103 (5), p.666-678

2018

Volltextzugriff (PDF)

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

Human molecular genetics, 2009-10, Vol.18 (19), p.3626-3631

2009

Volltextzugriff (PDF)

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Annals of neurology, 2019-12, Vol.86 (6), p.821-831

2019

Volltextzugriff (PDF)

Genetic contribution to common epilepsies

Current opinion in neurology, 2011-04, Vol.24 (2), p.140-145

2011

Volltextzugriff (PDF)

Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location

Human molecular genetics, 2001-10, Vol.10 (21), p.2373-2383

2001

Volltextzugriff (PDF)

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy

The New England journal of medicine, 2019-04, Vol.380 (16), p.e24-1028

2019

Volltextzugriff (PDF)

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Brain (London, England : 1878), 2010-01, Vol.133 (1), p.23-32

2010

Volltextzugriff (PDF)

Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry

Nucleic acids research, 2002-07, Vol.30 (13), p.2790-2799

2002

Volltextzugriff (PDF)

Evidence for a BRCA1 Founder Mutation in Families of West African Ancestry

American journal of human genetics, 1999-08, Vol.65 (2), p.575-578

1999

Volltextzugriff (PDF)

A96 MOLECULAR MYCOBACTERIOLOGY: HOST AND BACILLUS: Polymorphisms In Siglec5 And Siglec14 And Susceptibility To Tuberculosis

American journal of respiratory and critical care medicine, 2015-01, Vol.191, p.1

2015

Volltextzugriff (PDF)

1 – 25 von 136

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(118)
Mit Volltextzugriff
(112)

Publikationsform

Sprache

Englisch
(136)
Japanisch
(17)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(3)

Menü

Weitere Dienste

Einstellungen

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

De novo SCN1A mutations in migrating partial seizures of infancy

Genetic investigations of the epileptic encephalopathies: Recent advances

The complex structure and dynamic evolution of human subtelomeres

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2

A roadmap for precision medicine in the epilepsies

BRCA2 in American families with four or more cases of breast or ovarian cancer: Recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2

Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

Comparative sequencing of a multicopy subtelomeric region containing olfactory receptor genes reveals multiple interactions between non-homologous chromosomes

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Genetic contribution to common epilepsies

Transcriptional activity of multiple copies of a subtelomerically located olfactory receptor gene that is polymorphic in number and location

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Use of fluorescent sequence-specific polyamides to discriminate human chromosomes by microscopy and flow cytometry

Evidence for a BRCA1 Founder Mutation in Families of West African Ancestry

A96 MOLECULAR MYCOBACTERIOLOGY: HOST AND BACILLUS: Polymorphisms In Siglec5 And Siglec14 And Susceptibility To Tuberculosis

Suchergebnisse filtern