UB Paderborn / Katalog / Suche / in CDI

1 – 22 von 22

Sortiert nach

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

American journal of human genetics, 2010-04, Vol.86 (4), p.551-559

2010

Volltextzugriff (PDF)

The Wilms’ Tumor Suppressor Gene (wt1) Product Regulates Dax-1 Gene Expression during Gonadal Differentiation

Molecular and Cellular Biology, 1999-03, Vol.19 (3), p.2289-2299

1999

Volltextzugriff (PDF)

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

American journal of human genetics, 2010-10, Vol.87 (4), p.572-573

2010

Volltextzugriff (PDF)

Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

Diabetes (New York, N.Y.), 2004-07, Vol.53 (7), p.1876-1883

2004

Volltextzugriff (PDF)

Wolcott-Rallison Syndrome

Diabetes (New York, N.Y.), 2004-07, Vol.53 (7), p.1876-1883

2004

Volltextzugriff (PDF)

Effective parenteral clodronate treatment of a child with severe juvenile idiopathic osteoporosis

European journal of pediatrics, 2005, Vol.164 (1), p.22-27

2005

Volltextzugriff (PDF)

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11

American journal of human genetics, 1996-04, Vol.58 (4), p.734-742

1996

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)

PRENATAL IDENTIFICATION OF A HETEROZYGOUS STATUS IN TWO FETUSES AT RISK FOR GLUCOSE-GALACTOSE MALABSORPTION

Prenatal diagnosis, 1996-05, Vol.16 (5), p.458-462

1996

Volltextzugriff (PDF)

Cellular Homologs of the Avian Erythroblastosis Virus erb-A and erb-B Genes are Syntenic in Mouse but Asyntenic in Man

Proceedings of the National Academy of Sciences - PNAS, 1984-08, Vol.81 (15), p.4874-4878

1984

Volltextzugriff (PDF)

Suicide Screening in Sturge-Weber Syndrome: An Important Issue in Need of Further Study

Pediatric neurology, 2020-09, Vol.110, p.80-86

2020

Volltextzugriff (PDF)

Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome

Annals of the Child Neurology Society, 2024-03, Vol.2 (1), p.60-72

2024

Volltextzugriff (PDF)

Study protocol: retrospectively mining multisite clinical data to presymptomatically predict seizure onset for individual patients with Sturge-Weber

BMJ open, 2022-02, Vol.12 (2), p.e053103

2022

Volltextzugriff (PDF)

XXI. Congress of the ICLA: Proceedings. Dialogues between Media

Ferstl, Paul

2021

Volltextzugriff (PDF)

Improving Risk Assessment in Family Medicine Through the Family History

Journal of primary care & community health, 2010-10, Vol.1 (3), p.147-151

2010

Volltextzugriff (PDF)

Divergently Transcribed Overlapping Genes Expressed in Liver and Kidney and Located in the 11p15.5 Imprinted Domain

Genomics (San Diego, Calif.), 1998-04, Vol.49 (1), p.38-51

1998

Volltextzugriff (PDF)

Functional Characterization of Human Nucleosome Assembly Protein-2 (NAP1L4) Suggests a Role as a Histone Chaperone

Genomics (San Diego, Calif.), 1997-09, Vol.44 (3), p.253-265

1997

Volltextzugriff (PDF)

Kinetic and theoretical studies of the reactions acetylperoxy + nitrogen dioxide + M .dblarw. acetyl peroxynitrate + M between 248 and 393 K and between 30 and 760 torr

Journal of physical chemistry (1952), 1991-05, Vol.95 (9), p.3594-3600

1991

Volltextzugriff (PDF)

The Hyperfine Structure and Nuclear Moments of the Stable Chlorine Isotopes

Physical review, 1949-01, Vol.76 (8), p.1076-1085

1949

Volltextzugriff (PDF)

Bracing for a Hurricane: Trusts & Estates' Editorial Board Looks Ahead to 1986

Trusts & estates, 1986-01, Vol.125 (1), p.10

1986

Volltextzugriff (PDF)

Editorial Advisory Board Members Forecast Changes for Estate Planners and Administrators

Trusts & estates, 1984-01, Vol.123 (1), p.8

1984

Volltextzugriff (PDF)

A Deluge of Banking and Tax Issues Will Be Discussed in 1985

Trusts & estates, 1985-01, Vol.124 (1), p.10

1985

Volltextzugriff (PDF)

1 – 22 von 22

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(17)
Mit Volltextzugriff
(19)

Publikationsform

Sprache

Englisch
(22)
Japanisch
(4)

Erscheinungsjahr

n.n

Thema

Science & Technology
(14)
Life Sciences & Biomedicine
(12)
Humans
(11)
Biological And Medical Sciences
(7)
Child
(5)
Genes
(5)
Genetics & Heredity
(5)
Medical Sciences
(5)
Animals
(4)
Base Sequence
(4)
Genetics
(4)
Mice
(4)
Molecular Sequence Data
(4)
Chromosome Mapping
(3)
Female
(3)
Fundamental And Applied Biological Sciences. Psychology
(3)
Male
(3)
Medical Genetics
(3)
Patients
(3)
Pedigree
(3)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

The Wilms’ Tumor Suppressor Gene (wt1) Product Regulates Dax-1 Gene Expression during Gonadal Differentiation

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

Wolcott-Rallison Syndrome

Effective parenteral clodronate treatment of a child with severe juvenile idiopathic osteoporosis

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11

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

PRENATAL IDENTIFICATION OF A HETEROZYGOUS STATUS IN TWO FETUSES AT RISK FOR GLUCOSE-GALACTOSE MALABSORPTION

Cellular Homologs of the Avian Erythroblastosis Virus erb-A and erb-B Genes are Syntenic in Mouse but Asyntenic in Man

Suicide Screening in Sturge-Weber Syndrome: An Important Issue in Need of Further Study

Retrospective analysis of presymptomatic treatment in Sturge–Weber syndrome

Study protocol: retrospectively mining multisite clinical data to presymptomatically predict seizure onset for individual patients with Sturge-Weber

XXI. Congress of the ICLA: Proceedings. Dialogues between Media

Improving Risk Assessment in Family Medicine Through the Family History

Divergently Transcribed Overlapping Genes Expressed in Liver and Kidney and Located in the 11p15.5 Imprinted Domain

Functional Characterization of Human Nucleosome Assembly Protein-2 (NAP1L4) Suggests a Role as a Histone Chaperone

Kinetic and theoretical studies of the reactions acetylperoxy + nitrogen dioxide + M .dblarw. acetyl peroxynitrate + M between 248 and 393 K and between 30 and 760 torr

The Hyperfine Structure and Nuclear Moments of the Stable Chlorine Isotopes

Bracing for a Hurricane: Trusts & Estates' Editorial Board Looks Ahead to 1986

Editorial Advisory Board Members Forecast Changes for Estate Planners and Administrators

A Deluge of Banking and Tax Issues Will Be Discussed in 1985

Suchergebnisse filtern