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...

Mosaicism in Autosomal Dominant Polycystic Kidney Disease Revealed by Genetic Testing to Enable Living Related Renal Transplantation

American journal of transplantation, 2008-01, Vol.8 (1), p.232-237

2008

Volltextzugriff (PDF)

Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism

Journal of medical genetics, 2001-09, Vol.38 (9), p.599-610

2001

Volltextzugriff (PDF)

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

Human molecular genetics, 1995-05, Vol.4 (5), p.951-958

1995

Volltextzugriff (PDF)

22q11 deletion: a multisystem disorder requiring multidisciplinary input

Archives of disease in childhood, 2003-06, Vol.88 (6), p.523-524

2003

Volltextzugriff (PDF)

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD

Journal of medical genetics, 1997-06, Vol.34 (6), p.476-479

1997

Volltextzugriff (PDF)

Genetic counselling in facioscapulohumeral muscular dystrophy

Journal of medical genetics, 1991-10, Vol.28 (10), p.655-664

1991

Volltextzugriff (PDF)

Genetic analysis of the G4.5 gene in families with suspected Barth syndrome

The Journal of pediatrics, 1999-09, Vol.135 (3), p.311-315

1999

Volltextzugriff (PDF)

The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12 : implications for genetic counseling

American journal of human genetics, 1995-05, Vol.56 (5), p.1101-1107

1995

Volltextzugriff (PDF)

Genotype-Phenotype Correlation for Nucleotide Substitutions in the IgII-IgIII Linker of FGFR2

Human molecular genetics, 1997-01, Vol.6 (1), p.137-143

1997

Volltextzugriff (PDF)

An unusually severe phenotype for familial adenomatous polyposis

Archives of disease in childhood, 1997-11, Vol.77 (5), p.431-435

1997

Volltextzugriff (PDF)

A three generation family with fibrodysplasia ossificans progressiva

Journal of medical genetics, 1993-08, Vol.30 (8), p.687-689

1993

Volltextzugriff (PDF)

DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease

The Lancet (British edition), 1990-11, Vol.336 (8726), p.1320-1321

1990

Volltextzugriff (PDF)

Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias

Journal of medical genetics, 1989-12, Vol.26 (12), p.755-760

1989

Volltextzugriff (PDF)

Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements

Human molecular genetics, 1993-07, Vol.2 (7), p.981-987

1993

Volltextzugriff (PDF)

Distal trisomy 2p and arachnodactyly

Journal of medical genetics, 2000-12, Vol.37 (12), p.974-976

2000

Volltextzugriff (PDF)

The Opitz Syndrome Gene Product, MID1, Associates with Microtubules

Proceedings of the National Academy of Sciences - PNAS, 1999-03, Vol.96 (6), p.2794-2799

1999

Volltextzugriff (PDF)

44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies: 19–21 July 1996, Naarden, The Netherlands

Neuromuscular disorders : NMD, 1998-04, Vol.8 (2), p.126-130

Lunt, P.W

1998

Volltextzugriff (PDF)

A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q

Journal of medical genetics, 1999-08, Vol.36 (8), p.646-648

1999

Volltextzugriff (PDF)

Holoprosencephaly: a family showing dominant inheritance and variable expression

Journal of medical genetics, 1993-01, Vol.30 (1), p.36-40

1993

Volltextzugriff (PDF)

De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1)

Archives of disease in childhood, 1994-09, Vol.71 (3), p.221-227

1994

Volltextzugriff (PDF)

A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q

Journal of medical genetics, 1991-10, Vol.28 (10), p.665-671

1991

Volltextzugriff (PDF)

Siblings with Bohring-Opitz syndrome

Clinical dysmorphology, 2003-01, Vol.12 (1), p.15-20

2003

Volltextzugriff (PDF)

Duplication 2 (q11.2-q21): a previously unreported abnormality

Journal of medical genetics, 1995-10, Vol.32 (10), p.825-826

1995

Volltextzugriff (PDF)

A scapular onset muscular dystrophy without facial involvement: Possible allelism with facioscapulohumeral muscular dystrophy

Neuromuscular disorders : NMD, 1994-09, Vol.4 (5), p.477-482

1994

Volltextzugriff (PDF)

Wilms' tumour and a de novo (1;7) translocation in a child with bilateral radial aplasia

Journal of medical genetics, 1991-06, Vol.28 (6), p.411-412

1991

Volltextzugriff (PDF)

1 – 25 von 316

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(288)
Mit Volltextzugriff
(261)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Englisch
(315)
Russisch
(1)

Erscheinungsjahr

n.n

Thema

Science & Technology
(230)
Life Sciences & Biomedicine
(155)
Humans
(123)
Male
(97)
Female
(94)
Biological And Medical Sciences
(80)
Medical Sciences
(73)
Physical Sciences
(59)
Middle Aged
(56)
Aged
(45)
Adult
(43)
Physics
(43)
Animals
(32)
Genetics & Heredity
(29)
Rheumatology
(29)
Technology
(29)
Physics, Fluids & Plasmas
(27)
Endocrinology & Metabolism
(24)
Diseases Of The Osteoarticular System
(22)
Pedigree
(22)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Mosaicism in Autosomal Dominant Polycystic Kidney Disease Revealed by Genetic Testing to Enable Living Related Renal Transplantation

Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism

Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)

22q11 deletion: a multisystem disorder requiring multidisciplinary input

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD

Genetic counselling in facioscapulohumeral muscular dystrophy

Genetic analysis of the G4.5 gene in families with suspected Barth syndrome

The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12 : implications for genetic counseling

Genotype-Phenotype Correlation for Nucleotide Substitutions in the IgII-IgIII Linker of FGFR2

An unusually severe phenotype for familial adenomatous polyposis

A three generation family with fibrodysplasia ossificans progressiva

DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease

Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias

Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements

Distal trisomy 2p and arachnodactyly

The Opitz Syndrome Gene Product, MID1, Associates with Microtubules

44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies: 19–21 July 1996, Naarden, The Netherlands

A new family linked to the RP1 dominant retinitis pigmentosa locus on chromosome 8q

Holoprosencephaly: a family showing dominant inheritance and variable expression

De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1)

A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q

Siblings with Bohring-Opitz syndrome

Duplication 2 (q11.2-q21): a previously unreported abnormality

A scapular onset muscular dystrophy without facial involvement: Possible allelism with facioscapulohumeral muscular dystrophy

Wilms' tumour and a de novo (1;7) translocation in a child with bilateral radial aplasia

Suchergebnisse filtern