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...

Descripción y evolución del primer caso de síndrome de Jacobsen diagnosticado en Argentina, su analogía con anemia de Fancon

Hematología (En línea), 2023, Vol.27 (1)

2023

Volltextzugriff (PDF)

SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant

European journal of medical genetics, 2018-06, Vol.61 (6), p.335-340

2018

Volltextzugriff (PDF)

Gene‐targeted deletion in mice of the Ets−1 transcription factor, a candidate gene in the Jacobsen syndrome kidney “critical region,” causes abnormal kidney development

American journal of medical genetics. Part A, 2019-01, Vol.179 (1), p.71-77

2019

Volltextzugriff (PDF)

Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2877-2886

2020

Volltextzugriff (PDF)

Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome

European journal of medical genetics, 2023-07, Vol.66 (7), p.104747-104747, Article 104747

2023

Volltextzugriff (PDF)

Small 4p16.3 deletions: Three additional patients and review of the literature

American journal of medical genetics. Part A, 2018-11, Vol.176 (11), p.2501-2508

2018

Volltextzugriff (PDF)

Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation

Molecular syndromology, 2017-05, Vol.8 (3), p.131-138

2017

Volltextzugriff (PDF)

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation

Journal of medical genetics, 2008-03, Vol.45 (3), p.147-jmg

2008

Volltextzugriff (PDF)

13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients

Journal of medical genetics, 2007-01, Vol.44 (1), p.e60-e60

2007

Volltextzugriff (PDF)

Regulatory, scientific, and ethical issues arising from institutional activity in one of the 90 Italian Research Ethics Committees

BMC medical ethics, 2021-04, Vol.22 (1), p.40-40, Article 40

2021

Volltextzugriff (PDF)

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature

European journal of medical genetics, 2018-03, Vol.61 (3), p.173-180

2018

Volltextzugriff (PDF)

Growth hormone, gender and face shape in prader-willi syndrome

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2453-2463

2013

Volltextzugriff (PDF)

Interstitial 16p13.3 microduplication: Case report and critical review of genotype–phenotype correlation

European journal of medical genetics, 2012-12, Vol.55 (12), p.747-752

2012

Volltextzugriff (PDF)

Mild cystic fibrosis in patients with the rare P5L CFTR mutation

Journal of cystic fibrosis, 2012-01, Vol.11 (1), p.30-33

2012

Volltextzugriff (PDF)

Narrowing the deleted region associated with the 15q21 syndrome

European journal of medical genetics, 2005-07, Vol.48 (3), p.346-352

2005

Volltextzugriff (PDF)

Clinical and molecular characterization of patients with distal 11q deletions

American journal of human genetics, 1995-03, Vol.56 (3), p.676-683

1995

Volltextzugriff (PDF)

From chromosomes to molecular karyotyping : Narrowing the deleted region associated with the 15q21 syndrome

European journal of medical genetics, 2005, Vol.48 (3), p.346-352

2005

Volltextzugriff (PDF)

Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1

Journal of orthopaedic case reports, 2017-05, Vol.7 (3), p.63-66

2017

Volltextzugriff (PDF)

Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

Frontiers in genetics, 2023, Vol.14, p.1244983-1244983

2023

Volltextzugriff (PDF)

A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations

Intractable & Rare Diseases Research, 2021, pp.2020.03158

2021

Volltextzugriff (PDF)

Mental Retardation and Early Onset of Weakness in a Girl With a Dystrophinopathy and a Large Xp21-23 Deletion

Journal of child neurology, 2003-01, Vol.18 (1), p.79-81

2003

Volltextzugriff (PDF)

Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1

Journal of orthopaedic case reports, 2017, Vol.7 (3), p.63-66

2017

Volltextzugriff (PDF)

Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature

Clinical case reports, 2021, Vol.9 (2), p.922-926

2021

Volltextzugriff (PDF)

Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis

Frontiers in immunology, 2019, Vol.10, p.1685-1685

2019

Volltextzugriff (PDF)

Dysmegakaryopoietic Thrombocytopenia in Patients With Distal Chromosome 11q Deletion

Blood, 1996-06, Vol.87 (11), p.4915-4916

1996

Volltextzugriff (PDF)

26 – 50 von 58

Suche als RSS-Feed

Aktive Filter

ThemaMutation

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(48)
Mit Volltextzugriff
(56)

Publikationsform

Artikel
(54)
Berichte
(4)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Descripción y evolución del primer caso de síndrome de Jacobsen diagnosticado en Argentina, su analogía con anemia de Fancon

SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant

Gene‐targeted deletion in mice of the Ets−1 transcription factor, a candidate gene in the Jacobsen syndrome kidney “critical region,” causes abnormal kidney development

Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies

Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome

Small 4p16.3 deletions: Three additional patients and review of the literature

Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes. Clues to the mechanisms of formation

13q Deletion and central nervous system anomalies: further insights from karyotype–phenotype analyses of 14 patients

Regulatory, scientific, and ethical issues arising from institutional activity in one of the 90 Italian Research Ethics Committees

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature

Growth hormone, gender and face shape in prader-willi syndrome

Interstitial 16p13.3 microduplication: Case report and critical review of genotype–phenotype correlation

Mild cystic fibrosis in patients with the rare P5L CFTR mutation

Narrowing the deleted region associated with the 15q21 syndrome

Clinical and molecular characterization of patients with distal 11q deletions

From chromosomes to molecular karyotyping : Narrowing the deleted region associated with the 15q21 syndrome

Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1

Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants

A case series of adult patients affected by EAST/SeSAME syndrome suggests more severe disease in subjects bearing KCNJ10 truncating mutations

Mental Retardation and Early Onset of Weakness in a Girl With a Dystrophinopathy and a Large Xp21-23 Deletion

Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1

Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature

Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis

Dysmegakaryopoietic Thrombocytopenia in Patients With Distal Chromosome 11q Deletion

Aktive Filter

Suchergebnisse filtern