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...

Autism spectrum features in Smith-Magenis syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-11, Vol.154C (4), p.456-462

2010

Volltextzugriff (PDF)

Behavioral phenotype of smith-magenis syndrome (del 17p11.2)

American journal of medical genetics, 1998-03, Vol.81 (2), p.179-185

1998

Volltextzugriff (PDF)

Otologic and audiologic manifestations of hutchinson-gilford progeria syndrome

The Laryngoscope, 2011-10, Vol.121 (10), p.2250-2255

2011

Volltextzugriff (PDF)

Coexpression of a human P450 (CYP3A4) and P450 reductase generates a highly functional monooxygenase system in Escherichia coli

FEBS letters, 1996-11, Vol.397 (2), p.210-214

1996

Volltextzugriff (PDF)

Twenty‐four‐hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith–Magenis syndrome, a neurodevelopmental disorder

American journal of medical genetics. Part A, 2019-02, Vol.179 (2), p.224-236

2019

Volltextzugriff (PDF)

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND) phenotype

Human mutation, 2017-12, Vol.38 (12), p.1774-1785

2017

Volltextzugriff (PDF)

A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.490-497

2023

Volltextzugriff (PDF)

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant

American journal of medical genetics. Part A, 2016-09, Vol.170A (9), p.2383-2388

2016

Volltextzugriff (PDF)

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

Clinical genetics, 2007-06, Vol.71 (6), p.540-550

2007

Volltextzugriff (PDF)

Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2010-11, Vol.154C (4), p.463-468

2010

Volltextzugriff (PDF)

Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1382-1391

2009

Volltextzugriff (PDF)

Craniofacial and dental phenotype of Smith-Magenis syndrome

American journal of medical genetics. Part A, 2006-12, Vol.140A (23), p.2556-2561

2006

Volltextzugriff (PDF)

Sleep disturbance in smith-magenis syndrome (del 17 p11.2)

American journal of medical genetics, 1998-03, Vol.81 (2), p.186-191

1998

Volltextzugriff (PDF)

Diagnostic utility of daytime salivary melatonin levels in Smith-Magenis syndrome

American journal of medical genetics. Part A, 2010-01, Vol.152A (1), p.96-101

2010

Volltextzugriff (PDF)

Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome

Journal of intellectual disability research, 1998-12, Vol.42 (6), p.481-489

1998

Volltextzugriff (PDF)

DNA‐dependent protein kinase catalytic subunit: a target for an ICE‐like protease in apoptosis

The EMBO journal, 1996-07, Vol.15 (13), p.3238-3246

1996

Volltextzugriff (PDF)

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene

American journal of medical genetics, 2005-01, Vol.132A (3), p.278-282

2005

Volltextzugriff (PDF)

Stress and coping in families of children with Smith-Magenis syndrome

Journal of intellectual disability research, 1998-10, Vol.42 (5), p.331-340

1998

Volltextzugriff (PDF)

Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3

American journal of medical genetics, 1999-08, Vol.85 (4), p.369-375

1999

Volltextzugriff (PDF)

PRENATAL DIAGNOSIS OF UNIPARENTAL DISOMY 15 FOLLOWING TRISOMY 15 MOSAICISM

Prenatal diagnosis, 1996-04, Vol.16 (4), p.323-332

1996

Volltextzugriff (PDF)

Effects on the Upper Respiratory Passages

Otolaryngology-head and neck surgery, 1992-06, Vol.106 (6), p.720-729

1992

Volltextzugriff (PDF)

Monozygotic twin girls with congenital malformations resembling Fanconi anemia

American journal of medical genetics, 1992-04, Vol.42 (6), p.780-784

1992

Volltextzugriff (PDF)

Interstitial deletion of (17)(p11.2p11.2) in nine patients

American journal of medical genetics, 1986-07, Vol.24 (3), p.393-414

1986

Volltextzugriff (PDF)

British Association of Dermatologists guidelines for biologic therapy for psoriasis 2017

British journal of dermatology (1951), 2017-09, Vol.177 (3), p.628-636

2017

Volltextzugriff (PDF)

Natural history of the recombinant (8) syndrome

American journal of medical genetics, 1993-09, Vol.47 (4), p.512-525

1993

Volltextzugriff (PDF)

1 – 25 von 105

Suche als RSS-Feed

Aktive Filter

KollektionWiley Online Library Journals Frontfile Complete

ThemaHumans

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(94)
Mit Volltextzugriff
(101)

Publikationsform

Artikel
(105)

Sprache

Englisch
(105)

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Autism spectrum features in Smith-Magenis syndrome

Behavioral phenotype of smith-magenis syndrome (del 17p11.2)

Otologic and audiologic manifestations of hutchinson-gilford progeria syndrome

Coexpression of a human P450 (CYP3A4) and P450 reductase generates a highly functional monooxygenase system in Escherichia coli

Twenty‐four‐hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith–Magenis syndrome, a neurodevelopmental disorder

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1‐associated neurodevelopmental disorder (DAND) phenotype

A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome

Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

Craniofacial and dental phenotype of Smith-Magenis syndrome

Sleep disturbance in smith-magenis syndrome (del 17 p11.2)

Diagnostic utility of daytime salivary melatonin levels in Smith-Magenis syndrome

Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome

DNA‐dependent protein kinase catalytic subunit: a target for an ICE‐like protease in apoptosis

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene

Stress and coping in families of children with Smith-Magenis syndrome

Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3

PRENATAL DIAGNOSIS OF UNIPARENTAL DISOMY 15 FOLLOWING TRISOMY 15 MOSAICISM

Effects on the Upper Respiratory Passages

Monozygotic twin girls with congenital malformations resembling Fanconi anemia

Interstitial deletion of (17)(p11.2p11.2) in nine patients

British Association of Dermatologists guidelines for biologic therapy for psoriasis 2017

Natural history of the recombinant (8) syndrome

Aktive Filter

Suchergebnisse filtern