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...

Rare myelin protein zero sequence variant in late onset CMT1B

Journal of the neurological sciences, 2007-12, Vol.263 (1), p.177-179

2007

Volltextzugriff (PDF)

Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis

Neurology, 2004-05, Vol.62 (10), p.1865-1868

2004

Volltextzugriff (PDF)

Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12

Nature genetics, 1999-12, Vol.23 (4), p.391-392

1999

Volltextzugriff (PDF)

Clinical and genetic analysis of CMT1B in a Nigerian family

Muscle & nerve, 2003-05, Vol.27 (5), p.628-630

2003

Volltextzugriff (PDF)

Charcot–Marie–Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes

Neuromuscular disorders : NMD, 2002-10, Vol.12 (7), p.643-650

2002

Volltextzugriff (PDF)

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

Genetics in medicine, 2013-03, Vol.15 (3), p.178-186

2013

Volltextzugriff (PDF)

Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring

Neurology, 1994-01, Vol.44 (1), p.120-120

1994

Volltextzugriff (PDF)

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

American journal of human genetics, 1994-03, Vol.54 (3), p.414-423

1994

Volltextzugriff (PDF)

A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families

JAMA : the journal of the American Medical Association, 2001-11, Vol.286 (18), p.2257

2001

Volltextzugriff (PDF)

Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy

Neurology, 1998-05, Vol.50 (5), p.1501-1504

1998

Volltextzugriff (PDF)

Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy

American journal of human genetics, 1992-10, Vol.51 (4), p.721-729

1992

Volltextzugriff (PDF)

Genetic analysis of hispanic individuals with cystic fibrosis

American journal of human genetics, 1994-03, Vol.54 (3), p.443-446

1994

Volltextzugriff (PDF)

Severe X-Linked Charcot-Marie-Tooth Neuropathy Due to New Mutations [G59R(G→C), W44X(G→A)] in the Connexin 32 Gene

European neurology, 2000-01, Vol.44 (1), p.61-63

2000

Volltextzugriff (PDF)

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions

American journal of human genetics, 1987-03, Vol.40 (3), p.212-227

1987

Volltextzugriff (PDF)

Fatal Infantile X-Linked Neuropathy

Journal of child neurology, 2000-12, Vol.15 (12), p.829-830

2000

Volltextzugriff (PDF)

DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening

Human genetics, 1987-03, Vol.75 (3), p.213-216

1987

Volltextzugriff (PDF)

ACMG recommendations for standards for interpretation of sequence variations

Genetics in medicine, 2000-09, Vol.2 (5), p.302-303

2000

Volltextzugriff (PDF)

Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome

Clinical chemistry (Baltimore, Md.), 1994-11, Vol.40 (11 Pt 1), p.2099-2103

1994

Volltextzugriff (PDF)

Relationship of genotype to early pulmonary function in infants with cystic fibrosis identified through neonatal screening

The Journal of pediatrics, 1993-04, Vol.122 (4), p.550-555

1993

Volltextzugriff (PDF)

A rational approach to cystic fibrosis mutation analysis in Hispanics: reply to Arzimanoglou et al

American journal of human genetics, 1996-07, Vol.59 (1), p.269-272

1996

Volltextzugriff (PDF)

Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia

The Journal of clinical investigation, 1989-01, Vol.83 (1), p.95-99

1989

Volltextzugriff (PDF)

Mutation analysis of the cystic fibrosis transmembrane regulator gene in native American populations of the Southwest

American journal of human genetics, 1992-10, Vol.51 (4), p.736-740

1992

Volltextzugriff (PDF)

Identification of new markers in Xp21 between DXS28 (C7) and DMD

Genomics (San Diego, Calif.), 1992-08, Vol.13 (4), p.957-961

1992

Volltextzugriff (PDF)

Molecular Genetic Studies in Black Families with Sickle Cell Anemia and Unusually High Levels of Fetal Hemoglobin

Hemoglobin, 1992, Vol.16 (5), p.363-377

1992

Volltextzugriff (PDF)

Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus

Human genetics, 1989-09, Vol.83 (2), p.122-126

1989

Volltextzugriff (PDF)

1 – 25 von 128

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(113)
Mit Volltextzugriff
(99)

Publikationsform

Sprache

Englisch
(128)
Japanisch
(9)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Rare myelin protein zero sequence variant in late onset CMT1B

Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis

Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12

Clinical and genetic analysis of CMT1B in a Nigerian family

Charcot–Marie–Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families

Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy

Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy

Genetic analysis of hispanic individuals with cystic fibrosis

Severe X-Linked Charcot-Marie-Tooth Neuropathy Due to New Mutations [G59R(G→C), W44X(G→A)] in the Connexin 32 Gene

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions

Fatal Infantile X-Linked Neuropathy

DNA microextraction from dried blood spots on filter paper blotters: potential applications to newborn screening

ACMG recommendations for standards for interpretation of sequence variations

Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome

Relationship of genotype to early pulmonary function in infants with cystic fibrosis identified through neonatal screening

A rational approach to cystic fibrosis mutation analysis in Hispanics: reply to Arzimanoglou et al

Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia

Mutation analysis of the cystic fibrosis transmembrane regulator gene in native American populations of the Southwest

Identification of new markers in Xp21 between DXS28 (C7) and DMD

Molecular Genetic Studies in Black Families with Sickle Cell Anemia and Unusually High Levels of Fetal Hemoglobin

Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus

Suchergebnisse filtern