UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 118

Sortiert nach

Carrier screening of 22,296 patients in the IVF setting utilizing next generation DNA sequencing detects common, uncommon & otherwise undetectable mutations in prevalent, society-recommended disorders

Fertility and sterility, 2014-09, Vol.102 (3), p.e307-e307

2014

Volltextzugriff (PDF)

A rigorous process for selecting an optimal mutation set for population-based carrier screening

Fertility and sterility, 2013-09, Vol.100 (3), p.S190-S190

2013

Volltextzugriff (PDF)

High Carrier Screening Detection Rates Utilizing Next-Generation Sequencing

Fertility and sterility, 2012-03, Vol.97 (3), p.S34-S34

2012

Volltextzugriff (PDF)

Carrier screening of 8,500 IVF patients utilizing next generation DNA sequencing detects common, rare and otherwise undetectable mutations across society-recommended diseases

Fertility and sterility, 2013-09, Vol.100 (3), p.S479-S480

2013

Volltextzugriff (PDF)

Characterization of the Key Aroma Compounds in Apricots (Prunus armeniaca) by Application of the Molecular Sensory Science Concept

Journal of agricultural and food chemistry, 2007-06, Vol.55 (13), p.5221-5228

2007

Volltextzugriff (PDF)

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

American journal of human genetics, 1994-05, Vol.54 (5), p.741-747

1994

Volltextzugriff (PDF)

The γ-aminobutyric acid receptor γ3 subunit gene (GABRG3) is tightly linked to the α5 subunit gene (GABRA5) on human chromosome 15q11–q13 and is transcribed in the same orientation

Genomics (San Diego, Calif.), 1995-03, Vol.26 (2), p.258-264

1995

Volltextzugriff (PDF)

A Putative Gene Family in 15q11-13 and 16p11.2: Possible Implications for Prader-Willi and Angelman Syndromes

Proceedings of the National Academy of Sciences - PNAS, 1992-06, Vol.89 (12), p.5457-5461

1992

Volltextzugriff (PDF)

A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in the retinoblastoma gene

American journal of human genetics, 1992-12, Vol.51 (6), p.1450-1451

1992

Volltextzugriff (PDF)

Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma

Human genetics, 1989-09, Vol.83 (2), p.155-158

1989

Volltextzugriff (PDF)

Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma

Human genetics, 1994-11, Vol.94 (5), p.491-496

1994

Volltextzugriff (PDF)

Male teachers in elementary general music

Greger, Scott V

2014

Volltextzugriff (PDF)

Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma

Journal of medical genetics, 1988-04, Vol.25 (4), p.217-221

1988

Volltextzugriff (PDF)

Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient

Human molecular genetics, 1993-07, Vol.2 (7), p.921-924

1993

Volltextzugriff (PDF)

No evidence for linkage between lipoprotein(a) (LPA) and esterase D (ESD)

Cytogenetics and cell genetics, 1988-01, Vol.48 (4), p.248

1988

Volltextzugriff (PDF)

Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3

American journal of human genetics, 1997-03, Vol.60 (3), p.574-580

1997

Volltextzugriff (PDF)

Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene

Human molecular genetics, 1993-12, Vol.2 (12), p.1991-1994

1993

Volltextzugriff (PDF)

The gamma-aminobutyric acid receptor gamma 3 subunit gene (GABRG3) is tightly linked to the alpha 5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation

Genomics (San Diego, Calif.), 1995-03, Vol.26 (2), p.258-264

1995

Volltextzugriff (PDF)

Mapping of the Angelman and Prader-Willi syndromes

Progress in clinical and biological research, 1993, Vol.384, p.225

1993

Volltextzugriff (PDF)

The critical region for Angelman syndrome lies between D15S122 and D15S113

American journal of medical genetics, 1994-12, Vol.53 (4), p.396-398

1994

Volltextzugriff (PDF)

Somatic mosaicism in a patient with bilateral retinoblastoma

American journal of human genetics, 1990-06, Vol.46 (6), p.1187-1193

1990

Volltextzugriff (PDF)

Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma

American journal of medical genetics, 1991-05, Vol.39 (2), p.196-200

1991

Volltextzugriff (PDF)

Possible involvement of the retinoblastoma gene in undifferentiated sinonasal carcinoma

Cancer, 1990-11, Vol.66 (9), p.1954-1959

1990

Volltextzugriff (PDF)

A simple and nonradioactive method for detecting the Rb1. 20 DNA polymorphism in the retinoblastoma gene

American journal of human genetics, 1992-12, Vol.51:6

1992

Volltextzugriff (PDF)

Angelman syndrome associated with an inversion of chromosome l5ql1.2q24.3

American journal of human genetics, 1997, Vol.60 (3), p.574-580

1997

Volltextzugriff (PDF)

1 – 25 von 118

Suche als RSS-Feed

Aktive Filter

SpracheEnglisch

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(104)
Mit Volltextzugriff
(106)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(79)
Life Sciences & Biomedicine
(57)
Humans
(43)
Biological And Medical Sciences
(35)
Animals
(23)
Medical Sciences
(22)
Female
(19)
Male
(17)
Genetics & Heredity
(15)
Fundamental And Applied Biological Sciences. Psychology
(14)
Physical Sciences
(12)
Adult
(11)
Retinoblastoma - Genetics
(10)
Chromosome Mapping
(9)
Eye Neoplasms - Genetics
(9)
Physiology
(9)
Genes
(8)
Molecular Sequence Data
(8)
Multidisciplinary Sciences
(8)
Science & Technology - Other Topics
(8)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Carrier screening of 22,296 patients in the IVF setting utilizing next generation DNA sequencing detects common, uncommon & otherwise undetectable mutations in prevalent, society-recommended disorders

A rigorous process for selecting an optimal mutation set for population-based carrier screening

High Carrier Screening Detection Rates Utilizing Next-Generation Sequencing

Carrier screening of 8,500 IVF patients utilizing next generation DNA sequencing detects common, rare and otherwise undetectable mutations across society-recommended diseases

Characterization of the Key Aroma Compounds in Apricots (Prunus armeniaca) by Application of the Molecular Sensory Science Concept

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

The γ-aminobutyric acid receptor γ3 subunit gene (GABRG3) is tightly linked to the α5 subunit gene (GABRA5) on human chromosome 15q11–q13 and is transcribed in the same orientation

A Putative Gene Family in 15q11-13 and 16p11.2: Possible Implications for Prader-Willi and Angelman Syndromes

A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in the retinoblastoma gene

Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma

Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma

Male teachers in elementary general music

Application of linkage analysis to genetic counselling in families with hereditary retinoblastoma

Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient

No evidence for linkage between lipoprotein(a) (LPA) and esterase D (ESD)

Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3

Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene

The gamma-aminobutyric acid receptor gamma 3 subunit gene (GABRG3) is tightly linked to the alpha 5 subunit gene (GABRA5) on human chromosome 15q11-q13 and is transcribed in the same orientation

Mapping of the Angelman and Prader-Willi syndromes

The critical region for Angelman syndrome lies between D15S122 and D15S113

Somatic mosaicism in a patient with bilateral retinoblastoma

Characterization of deletions at the retinoblastoma locus in patients with bilateral retinoblastoma

Possible involvement of the retinoblastoma gene in undifferentiated sinonasal carcinoma

A simple and nonradioactive method for detecting the Rb1. 20 DNA polymorphism in the retinoblastoma gene

Angelman syndrome associated with an inversion of chromosome l5ql1.2q24.3

Aktive Filter

Suchergebnisse filtern