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...

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Human molecular genetics, 2009-06, Vol.18 (12), p.2149-2165

2009

Volltextzugriff (PDF)

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

The Journal of pediatrics, 1995-07, Vol.127 (1), p.82-87

1995

Volltextzugriff (PDF)

Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome

Human genetics, 2001-02, Vol.108 (2), p.109-115

2001

Volltextzugriff (PDF)

Bilateral Semilunar Valve Dysplasia in a Patient with Inverted Duplication 2p25–22

Pediatric cardiology, 2008, Vol.29 (1), p.172-175

2008

Volltextzugriff (PDF)

Treatment of antenatal myasthenia gravis

Obstetrics and gynecology (New York. 1953), 1991-09, Vol.78 (3 Pt 2), p.485

1991

Volltextzugriff (PDF)

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

Human genetics, 1996-12, Vol.98 (6), p.710-718

1996

Volltextzugriff (PDF)

Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome

Prenatal diagnosis, 1997-02, Vol.17 (2), p.187-189

1997

Volltextzugriff (PDF)

Anxiety in women with low maternal serum alpha-fetoprotein screening results

Prenatal diagnosis, 1991-06, Vol.11 (6), p.381-385

1991

Volltextzugriff (PDF)

Limb defects and congenital anomalies of the genitalia in an infant with homozygous α-thalassemia

American journal of medical genetics, 1997-01, Vol.68 (2), p.158-161

1997

Volltextzugriff (PDF)

Macrocephaly-Cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities

American journal of medical genetics, 1997-05, Vol.70 (1), p.67-73

1997

Volltextzugriff (PDF)

Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32)

Journal of medical genetics, 1982-12, Vol.19 (6), p.473-476

1982

Volltextzugriff (PDF)

Neurofibromatosis with fully expressed Noonan syndrome

American journal of medical genetics, 1988-04, Vol.29 (4), p.937-941

1988

Volltextzugriff (PDF)

Prognosis for couples who have experienced repeated pregnancy loss

Fertility and sterility, 1983-12, Vol.40 (6), p.844-845

1983

Volltextzugriff (PDF)

Symmetrical infantile thalamic degeneration in two sibs

Journal of medical genetics, 1981-12, Vol.18 (6), p.448-450

1981

Volltextzugriff (PDF)

Ataxia telangiectasia and acinic cell carcinoma of the parotid gland

Journal of surgical oncology, 1988-10, Vol.39 (2), p.133-138

1988

Volltextzugriff (PDF)

Cholesterol supplementation in Smith-Lemli-Opitz syndrome

American journal of medical genetics, 1998-07, Vol.78 (4), p.378-378

Abuelo, Dianne N.

1998

Volltextzugriff (PDF)

Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols

American journal of medical genetics, 1995-04, Vol.56 (3), p.281-285

1995

Volltextzugriff (PDF)

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

American journal of medical genetics, 1999-07, Vol.85 (2), p.160-170

1999

Volltextzugriff (PDF)

Premature Alzheimer disease was not due to trauma: molecular biology revises diagnosis 15 years after patient's autopsy

Archives of neurology (Chicago), 1998-08, Vol.55 (8), p.1155-1155

1998

Volltextzugriff (PDF)

Cardiac malformation in two infants with hypochondrogenesis

American journal of medical genetics, 1995-11, Vol.59 (3), p.295-299

1995

Volltextzugriff (PDF)

Acute Renal Insufficiency Due to Renal Infarctions in a Patient With Neurofibromatosis

American journal of kidney diseases, 1990-04, Vol.15 (4), p.357-360

1990

Volltextzugriff (PDF)

Insertional translocations: Report of two new families and review of the literature

American journal of medical genetics, 1988-10, Vol.31 (2), p.319-329

1988

Volltextzugriff (PDF)

Follow-up of infants with amniotic fluid trisomy 20 mosaicism

American journal of medical genetics, 1986-07, Vol.24 (3), p.475-481

1986

Volltextzugriff (PDF)

Prolife Perinatologist

The New England journal of medicine, 1992-09, Vol.327 (11), p.812-814

Rubsamen, D S

1992

Volltextzugriff (PDF)

1 – 25 von 43

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(32)
Mit Volltextzugriff
(29)

Publikationsform

Artikel
(43)

Sprache

Englisch
(43)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome

Bilateral Semilunar Valve Dysplasia in a Patient with Inverted Duplication 2p25–22

Treatment of antenatal myasthenia gravis

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

Maternal serum marker levels in two pregnancies affected with Smith-Lemli-Opitz syndrome

Anxiety in women with low maternal serum alpha-fetoprotein screening results

Limb defects and congenital anomalies of the genitalia in an infant with homozygous α-thalassemia

Macrocephaly-Cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32)

Neurofibromatosis with fully expressed Noonan syndrome

Prognosis for couples who have experienced repeated pregnancy loss

Symmetrical infantile thalamic degeneration in two sibs

Ataxia telangiectasia and acinic cell carcinoma of the parotid gland

Cholesterol supplementation in Smith-Lemli-Opitz syndrome

Prenatal detection of the cholesterol biosynthetic defect in the Smith-Lemli-Opitz syndrome by the analysis of amniotic fluid sterols

Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation

Premature Alzheimer disease was not due to trauma: molecular biology revises diagnosis 15 years after patient's autopsy

Cardiac malformation in two infants with hypochondrogenesis

Acute Renal Insufficiency Due to Renal Infarctions in a Patient With Neurofibromatosis

Insertional translocations: Report of two new families and review of the literature

Follow-up of infants with amniotic fluid trisomy 20 mosaicism

Prolife Perinatologist

Suchergebnisse filtern