UB Paderborn / Katalog / Suche / in CDI

1 – 10 von 10

Sortiert nach

Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection

Electrophoresis, 1999, Vol.20 (6), p.1177-1185

1999

Volltextzugriff (PDF)

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome

American journal of medical genetics, 2003-12, Vol.123A (3), p.236-242

2003

Volltextzugriff (PDF)

Lowe Syndrome, a deficiency of a phosphatidyl-inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus

Human molecular genetics, 1995-12, Vol.4 (12), p.2245-2250

1995

Volltextzugriff (PDF)

Ocrl1, a PtdIns(4,5)P2 5-Phosphatase, Is Localized to the Trans-Golgi Network of Fibroblasts and Epithelial Cells

The journal of histochemistry and cytochemistry, 2000-02, Vol.48 (2), p.179-189

2000

Volltextzugriff (PDF)

The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex

American journal of human genetics, 1995-10, Vol.57 (4), p.817-823

1995

Volltextzugriff (PDF)

704: Prenatal testing for Noonan spectrum disorders using a multi-gene sequencing panel in fetuses with abnormal ultrasound findings

American journal of obstetrics and gynecology, 2012, Vol.206 (1), p.S313-S313

2012

Volltextzugriff (PDF)

Recurrent cutaneous infections, hyperkeratosis, ichthyosis and deafness and a newly identified connexin 26 gene mutation A40V

Journal of allergy and clinical immunology, 2002, Vol.109 (1), p.S78-S78

2002

Volltextzugriff (PDF)

Molecular and clinical analyses of greig cephalopolysyndactyly and pallister-hall syndromes : Robust phenotype prediction from the type and position of GL13 mutations

American journal of human genetics, 2005, Vol.76 (4), p.609-622

2005

Volltextzugriff (PDF)

Ocrl1, a PtdIns(4,5)P 2 5-Phosphatase, Is Localized to the Trans -Golgi Network of Fibroblasts and Epithelial Cells

The journal of histochemistry and cytochemistry, 2000-02, Vol.48 (2), p.179-189

2000

Volltextzugriff (PDF)

Immunological identification, localization and characterization of the Lowe syndrome (OCRL) protein

Olivos-Glander, Isabelle Marie

1996

Volltextzugriff (PDF)

1 – 10 von 10

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(9)
Mit Volltextzugriff
(9)

Publikationsform

Artikel
(9)
Dissertationen
(1)

Sprache

Englisch
(10)
Japanisch
(3)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome

Lowe Syndrome, a deficiency of a phosphatidyl-inositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus

Ocrl1, a PtdIns(4,5)P2 5-Phosphatase, Is Localized to the Trans-Golgi Network of Fibroblasts and Epithelial Cells

The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex

704: Prenatal testing for Noonan spectrum disorders using a multi-gene sequencing panel in fetuses with abnormal ultrasound findings

Recurrent cutaneous infections, hyperkeratosis, ichthyosis and deafness and a newly identified connexin 26 gene mutation A40V

Molecular and clinical analyses of greig cephalopolysyndactyly and pallister-hall syndromes : Robust phenotype prediction from the type and position of GL13 mutations

Ocrl1, a PtdIns(4,5)P 2 5-Phosphatase, Is Localized to the Trans -Golgi Network of Fibroblasts and Epithelial Cells

Immunological identification, localization and characterization of the Lowe syndrome (OCRL) protein

Suchergebnisse filtern