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...

Speech characteristics in the Kabuki syndrome

American journal of medical genetics, 2003-02, Vol.116A (4), p.338-341

2003

Volltextzugriff (PDF)

Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome

Mammalian genome, 2000-11, Vol.11 (11), p.1000-1005

2000

Volltextzugriff (PDF)

Familial testicular germ cell tumor: no associated syndromic pattern identified

Hereditary cancer in clinical practice, 2014-02, Vol.12 (1), p.3-3, Article 3

2014

Volltextzugriff (PDF)

Testing for interaction between maternal smoking and TGFA genotype among oral cleft cases born in Maryland 1992-1996

The Cleft palate-craniofacial journal, 1997-09, Vol.34 (5), p.447-454

1997

Volltextzugriff (PDF)

Testing Children for Genetic Predispositions: Is it in Their Best Interest?

Law, medicine & health care, 1995, Vol.23 (4), p.331-344

1995

Volltextzugriff (PDF)

α1-Antitrypsin Deficiency: Impact of Genetic Discovery on Medicine and Society

JAMA : the journal of the American Medical Association, 1994-01, Vol.271 (3), p.217

Wulfsberg, Eric A.

1994

Volltextzugriff (PDF)

Testing for Interaction between Maternal Smoking and TGFA Genotype among Oral Cleft Cases Born in Maryland 1992–1996

The Cleft palate-craniofacial journal, 1997-09, Vol.34 (5), p.447-454

1997

Volltextzugriff (PDF)

The impact of genetic testing on primary care: where's the beef?

American family physician, 2000-02, Vol.61 (4), p.971-974

Wulfsberg, E A

2000

Volltextzugriff (PDF)

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders

American journal of medical genetics, 2002-08, Vol.111 (3), p.324-327

2002

Volltextzugriff (PDF)

A complex chromosome rearrangement in a boy with autism

Journal of developmental and behavioral pediatrics, 1992-08, Vol.13 (4), p.281-283

1992

Volltextzugriff (PDF)

Complex chromosomal rearrangements: some breakpoints may have cellular adaptive significance

Clinical genetics, 1994-09, Vol.46 (3), p.244-247

1994

Volltextzugriff (PDF)

Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia

Clinical genetics, 1991-05, Vol.39 (5), p.370-375

1991

Volltextzugriff (PDF)

Gorlin syndrome (naevoid basal cell carcinoma syndrome): Prenatal detection in a fetus with macrocephaly and ventriculomegaly

Prenatal diagnosis, 1994-08, Vol.14 (8), p.725-727

1994

Volltextzugriff (PDF)

The inheritance of conotruncal malformations: a review and report of two siblings with tetralogy of Fallot with pulmonary atresia

Clinical genetics, 1991-07, Vol.40 (1), p.12-16

1991

Volltextzugriff (PDF)

Chondrodysplasia punctata: A boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders

American journal of medical genetics, 1992-07, Vol.43 (5), p.823-828

1992

Volltextzugriff (PDF)

Chromosome 10qter deletion syndrome: A review and report of three new cases

American journal of medical genetics, 1989-03, Vol.32 (3), p.364-367

1989

Volltextzugriff (PDF)

Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15

American journal of medical genetics, 2000-07, Vol.93 (3), p.215-218

2000

Volltextzugriff (PDF)

What's in a name? chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomalies face syndromes

American journal of medical genetics, 1996-11, Vol.65 (4), p.317-319

1996

Volltextzugriff (PDF)

Antenatal diagnosis of lethal skeletal dysplasias

American journal of medical genetics, 1998-02, Vol.75 (5), p.518-522

1998

Volltextzugriff (PDF)

Is the autosomal dominant Opitz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2?

American journal of medical genetics, 1996-08, Vol.64 (3), p.523-524

Wulfsberg, Eric A.

1996

Volltextzugriff (PDF)

Vertebral hypersegmentation in a case of the VATER association

American journal of medical genetics, 1992-04, Vol.42 (6), p.766-770

1992

Volltextzugriff (PDF)

Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area22q11.2: Report of five families with a review of the literature

American journal of medical genetics, 1996-11, Vol.65 (4), p.309-316

1996

Volltextzugriff (PDF)

High resolution chromosome banding in the Rubinstein-Taybi syndrome

Clinical genetics, 1983-01, Vol.23 (1), p.35-37

1983

Volltextzugriff (PDF)

"Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: Expansion of the phenotypic spectrum

American journal of medical genetics, 1993-09, Vol.47 (3), p.405-409

1993

Volltextzugriff (PDF)

On the nosology of the "Schinzel-phocomelia" and "Al-Awadi/Raas-Rothschield" syndromes

American journal of medical genetics, 1993-12, Vol.47 (8), p.1234-1234

1993

Volltextzugriff (PDF)

1 – 25 von 38

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(22)
Mit Volltextzugriff
(27)

Publikationsform

Artikel
(37)
Berichte
(1)

Sprache

Englisch
(38)

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(29)
Science & Technology
(29)
Humans
(28)
Genetics & Heredity
(24)
Biological And Medical Sciences
(23)
Medical Sciences
(23)
Female
(16)
Male
(14)
Medical Genetics
(11)
Abnormalities, Multiple - Genetics
(10)
Infant, Newborn
(10)
Syndrome
(10)
Phenotype
(9)
Child
(7)
Diseases Of The Osteoarticular System
(7)
Malformations And Congenital And Or Hereditary Diseases Involving Bones. Joint Deformations
(7)
Mental Retardation
(7)
Chromosome Aberrations
(6)
Chromosomes
(6)
Complex Syndromes
(6)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Speech characteristics in the Kabuki syndrome

Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome

Familial testicular germ cell tumor: no associated syndromic pattern identified

Testing for interaction between maternal smoking and TGFA genotype among oral cleft cases born in Maryland 1992-1996

Testing Children for Genetic Predispositions: Is it in Their Best Interest?

α1-Antitrypsin Deficiency: Impact of Genetic Discovery on Medicine and Society

Testing for Interaction between Maternal Smoking and TGFA Genotype among Oral Cleft Cases Born in Maryland 1992–1996

The impact of genetic testing on primary care: where's the beef?

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders

A complex chromosome rearrangement in a boy with autism

Complex chromosomal rearrangements: some breakpoints may have cellular adaptive significance

Monozygotic twin girls with diploid/triploid chromosome mosaicism and cutaneous pigmentary dysplasia

Gorlin syndrome (naevoid basal cell carcinoma syndrome): Prenatal detection in a fetus with macrocephaly and ventriculomegaly

The inheritance of conotruncal malformations: a review and report of two siblings with tetralogy of Fallot with pulmonary atresia

Chondrodysplasia punctata: A boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders

Chromosome 10qter deletion syndrome: A review and report of three new cases

Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15

What's in a name? chromosome 22q abnormalities and the DiGeorge, velocardiofacial, and conotruncal anomalies face syndromes

Antenatal diagnosis of lethal skeletal dysplasias

Is the autosomal dominant Opitz GBBB syndrome part of the DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2?

Vertebral hypersegmentation in a case of the VATER association

Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area22q11.2: Report of five families with a review of the literature

High resolution chromosome banding in the Rubinstein-Taybi syndrome

"Holoprosencephaly-polydactyly" (pseudotrisomy 13) syndrome: Expansion of the phenotypic spectrum

On the nosology of the "Schinzel-phocomelia" and "Al-Awadi/Raas-Rothschield" syndromes

Suchergebnisse filtern