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...

Genetic predisposition to radiation induced sarcoma: possible role for BRCA and p53 mutations

Breast cancer research and treatment, 2013-07, Vol.140 (1), p.207-211

2013

Volltextzugriff (PDF)

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

European journal of human genetics : EJHG, 2012-06, Vol.20 (6), p.645-649

2012

Volltextzugriff (PDF)

Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy

Human molecular genetics, 2005-12, Vol.14 (24), p.3911-3920

2005

Volltextzugriff (PDF)

A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer

BMC cancer, 2007, Vol.7 (1), p.14-14, Article 14

2007

Volltextzugriff (PDF)

Evidence for clinical and genetic heterogeneity in hereditary benign telangiectasia

Journal of the American Academy of Dermatology, 2007-11, Vol.57 (5), p.814-818

2007

Volltextzugriff (PDF)

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

American journal of human genetics, 2008-10, Vol.83 (4), p.529-534

2008

Volltextzugriff (PDF)

Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies

Prenatal diagnosis, 2018-01, Vol.38 (2), p.135-139

2018

Volltextzugriff (PDF)

A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem

Journal of human genetics, 2005-05, Vol.50 (5), p.230-234

2005

Volltextzugriff (PDF)

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

Neurology, 2015-02, Vol.84 (7), p.659-667

2015

Volltextzugriff (PDF)

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations

Investigative ophthalmology & visual science, 2018-02, Vol.59 (2), p.1095-1104

2018

Volltextzugriff (PDF)

Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon

Journal of molecular neuroscience, 2022-08, Vol.72 (8), p.1715-1723

2022

Volltextzugriff (PDF)

Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance

Gastroenterology (New York, N.Y. 1943), 2017-06, Vol.152 (8), p.1876-1880.e1

2017

Volltextzugriff (PDF)

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder

Brain (London, England : 1878), 2015-09, Vol.138 (Pt 9), p.2521-2536

2015

Volltextzugriff (PDF)

Mutation spectrum in HNPCC in the Israeli population

Familial cancer, 2008-12, Vol.7 (4), p.309-317

2008

Volltextzugriff (PDF)

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

Neurogenetics, 2007-11, Vol.8 (4), p.307-315

2007

Volltextzugriff (PDF)

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia

Journal of neurology, 2014-11, Vol.261 (11), p.2165-2169

2014

Volltextzugriff (PDF)

Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease

JAMA neurology, 2015-04, Vol.72 (4), p.441

2015

Volltextzugriff (PDF)

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Brain (London, England : 1878), 2008-03, Vol.131 (3), p.772-784

2008

Volltextzugriff (PDF)

MYORG is associated with recessive primary familial brain calcification

Annals of clinical and translational neurology, 2019-01, Vol.6 (1), p.106-113

2019

Volltextzugriff (PDF)

Double Heterozygotes for the Ashkenazi Founder Mutations in BRCA1 and BRCA2 Genes

American journal of human genetics, 1998-10, Vol.63 (4), p.1224-1227

1998

Volltextzugriff (PDF)

Genetic screening in patients with Retinoblastoma in Israel

Familial cancer, 2015-09, Vol.14 (3), p.471-480

2015

Volltextzugriff (PDF)

Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity

Pediatric blood & cancer, 2016-03, Vol.63 (3), p.418-427

2016

Volltextzugriff (PDF)

Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome

American journal of human genetics, 2006-11, Vol.79 (5), p.878-889

2006

Volltextzugriff (PDF)

Genetic predisposition to radiation induced sarcoma: possible role for BRCA and p53 mutations

Breast cancer research and treatment, 2013-07, Vol.140 (1), p.207

2013

Volltextzugriff (PDF)

An Ashkenazi founder mutation in the PKHD1 gene

European journal of medical genetics, 2016-02, Vol.59 (2), p.86-90

2016

Volltextzugriff (PDF)

1 – 25 von 90

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(74)
Mit Volltextzugriff
(82)

Publikationsform

Artikel
(88)
Berichte
(2)

Sprache

Englisch
(89)
Hebräisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Genetic predisposition to radiation induced sarcoma: possible role for BRCA and p53 mutations

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy

A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer

Evidence for clinical and genetic heterogeneity in hereditary benign telangiectasia

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies

A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations

Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon

Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder

Mutation spectrum in HNPCC in the Israeli population

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia

Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

MYORG is associated with recessive primary familial brain calcification

Double Heterozygotes for the Ashkenazi Founder Mutations in BRCA1 and BRCA2 Genes

Genetic screening in patients with Retinoblastoma in Israel

Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity

Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome

Genetic predisposition to radiation induced sarcoma: possible role for BRCA and p53 mutations

An Ashkenazi founder mutation in the PKHD1 gene

Suchergebnisse filtern