UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 28

Sortiert nach

Familial thrombocytosis caused by the novel germ‐line mutation p.Pro106Leu in the MPL gene

British journal of haematology, 2009-01, Vol.144 (2), p.185-194

2009

Volltextzugriff (PDF)

Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme

Human mutation, 2011-11, Vol.32 (11), p.1197-1203

2011

Volltextzugriff (PDF)

Are polymorphisms of molecules involved in bone healing correlated to aseptic femoral and tibial shaft non-unions?

Journal of orthopaedic research, 2011-11, Vol.29 (11), p.1724-1731

2011

Volltextzugriff (PDF)

Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome

Clinical genetics, 2009-11, Vol.76 (5), p.493-495

2009

Volltextzugriff (PDF)

CFTR gene mutations and male infertility

Andrologia, 2000-03, Vol.32 (2), p.71-83

2000

Volltextzugriff (PDF)

Tourette syndrome is not caused by mutations in the central cannabinoid receptor (CNR1) gene

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2004-05, Vol.127B (1), p.97-103

2004

Volltextzugriff (PDF)

Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: Identification of five novel ALK1 and one novel ENG mutations

Human mutation, 2005-03, Vol.25 (3), p.320-320

2005

Volltextzugriff (PDF)

Genetic knowledge among participants of a German pilot study on hemochromatosis screening

Clinical genetics, 2006-07, Vol.70 (1), p.73-77

2006

Volltextzugriff (PDF)

The cannabinoid receptor gene (CNR1) is not affected in German i.v. drug users

Addiction biology, 2001-04, Vol.6 (2), p.183-187

2001

Volltextzugriff (PDF)

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias

Movement disorders, 2004-11, Vol.19 (11), p.1294-1297

2004

Volltextzugriff (PDF)

Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency

American journal of medical genetics. Part A, 2006-01, Vol.140A (1), p.62-69

2006

Volltextzugriff (PDF)

Hepatic manifestation is associated withALK1 in hereditary hemorrhagic telangiectasia: Identification of five novelALK1 and one novelENG mutations

Human mutation, 2005-03, Vol.25 (3), p.320-320

2005

Volltextzugriff (PDF)

Molekularbiologie der Mukoviszidose

Biologie in Unserer Zeit, 1996, Vol.26 (5), p.282-291

1996

Volltextzugriff (PDF)

Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis

Human mutation, 1998, Vol.11 (1), p.90-91

1998

Volltextzugriff (PDF)

Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient

Human mutation, 2000-10, Vol.16 (4), p.374-374

2000

Volltextzugriff (PDF)

Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients

Human mutation, 1995, Vol.5 (3), p.210-220

1995

Volltextzugriff (PDF)

Molekularbiologie der Mukoviszidose

Biologie in Unserer Zeit, 1996-09, Vol.26 (5), p.282-291

1996

Volltextzugriff (PDF)

Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency)

Prenatal diagnosis, 1998-09, Vol.18 (9), p.953-955

1998

Volltextzugriff (PDF)

Mutation analysis in 46 German families with familial hypercholesterolemia: Identification of 8 new mutations

Human mutation, 1999, Vol.13 (3), p.257-257

1999

Volltextzugriff (PDF)

Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation

Human mutation, 1995, Vol.6 (3), p.219-225

1995

Volltextzugriff (PDF)

Missense variation of the CFTR gene codon 507

Human mutation, 1992, Vol.1 (2), p.165-165

1992

Volltextzugriff (PDF)

Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome

Clinical genetics, 2009, Vol.76 (5), p.493-495

2009

Volltextzugriff (PDF)

The direct early diagnosis of cystic fibrosis by the detection of the deltaF508 CFTR gene mutation in a prematurely delivered boy

Clinical genetics, 1991-03, Vol.39 (3), p.219-222

1991

Volltextzugriff (PDF)

Tourette syndrome is not caused by mutations in the central cannabinoid receptor (CNR1) gene

American journal of medical genetics, 2004, Vol.127B (1), p.97-103

2004

Volltextzugriff (PDF)

1 – 25 von 28

Suche als RSS-Feed

Aktive Filter

KollektionWiley Online Library Full Collection 2018

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(25)
Mit Volltextzugriff
(25)

Publikationsform

Artikel
(26)
Berichte
(2)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

2 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Familial thrombocytosis caused by the novel germ‐line mutation p.Pro106Leu in the MPL gene

Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme

Genetic association signal near NTN4 in Tourette syndrome

Are polymorphisms of molecules involved in bone healing correlated to aseptic femoral and tibial shaft non-unions?

Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome

CFTR gene mutations and male infertility

Tourette syndrome is not caused by mutations in the central cannabinoid receptor (CNR1) gene

Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: Identification of five novel ALK1 and one novel ENG mutations

Genetic knowledge among participants of a German pilot study on hemochromatosis screening

The cannabinoid receptor gene (CNR1) is not affected in German i.v. drug users

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias

Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency

Hepatic manifestation is associated withALK1 in hereditary hemorrhagic telangiectasia: Identification of five novelALK1 and one novelENG mutations

Molekularbiologie der Mukoviszidose

Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis

Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient

Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients

Molekularbiologie der Mukoviszidose

Prenatal diagnosis of congenital alveolar proteinosis (surfactant protein B deficiency)

Mutation analysis in 46 German families with familial hypercholesterolemia: Identification of 8 new mutations

Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation

Missense variation of the CFTR gene codon 507

Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome

The direct early diagnosis of cystic fibrosis by the detection of the deltaF508 CFTR gene mutation in a prematurely delivered boy

Tourette syndrome is not caused by mutations in the central cannabinoid receptor (CNR1) gene

Aktive Filter

Suchergebnisse filtern