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...

4.3‐Mb triplication of 4q32.1–q32.2: Report of a family through two generations

American journal of medical genetics. Part A, 2009-10, Vol.149A (10), p.2274-2279

2009

Volltextzugriff (PDF)

Malignant hematological disorders in children with Wolf–Hirschhorn syndrome

American journal of medical genetics, 2003-06, Vol.119A (2), p.194-199

2003

Volltextzugriff (PDF)

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.509-514

2006

Volltextzugriff (PDF)

Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)

Journal of pediatric ophthalmology and strabismus, 1998-09, Vol.35 (5), p.271-276

1998

Volltextzugriff (PDF)

Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders

American journal of medical genetics, 2001-05, Vol.105 (4), p.354-362

2001

Volltextzugriff (PDF)

Association of the t(12;22)(q13;q12) EWS/ATF1 rearrangement with polyphenotypic round cell sarcoma of bone: a case report

The American journal of surgical pathology, 2005-12, Vol.29 (12), p.1673-1679

2005

Volltextzugriff (PDF)

Peripheral medulloepithelioma: an immunohistochemical, ultrastructural, and cytogenetic study of a rare, chemotherapy-sensitive, pediatric tumor

The American journal of surgical pathology, 2003-07, Vol.27 (7), p.1008-1012

2003

Volltextzugriff (PDF)

Association of the t(12;22)(913;912) EWS/ATF1 Rearrangement With Polyphenotypic Round Cell Sarcoma of Bone

The American journal of surgical pathology, 2006-08, Vol.30 (8), p.1058-1059

2006

Volltextzugriff (PDF)

Late-appearing Philadelphia chromosome in childhood acute myeloid leukemia

Pediatric Blood & Cancer, 2008-05, Vol.50 (5), p.1052-1053

2008

Volltextzugriff (PDF)

Intrascrotal lipoblastoma with a complex karyotype: a case report and review of the literature

Archives of pathology & laboratory medicine (1976), 2004-07, Vol.128 (7), p.797-800

2004

Volltextzugriff (PDF)

Secondary Cytogenetic Abnormalities and Outcome in Children with TEL-AML1-Positive Acute Lymphoblastic Leukemia

Blood, 2005-11, Vol.106 (11), p.1450-1450

2005

Volltextzugriff (PDF)

Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depression

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2006-04, Vol.141B (3), p.214-219

2006

Volltextzugriff (PDF)

Interstitial deletion of 1p22.2p31.1 and medium‐chain acyl‐CoA dehydrogenase deficiency in a patient with global developmental delay

American journal of medical genetics. Part A, 2008-06, Vol.146A (12), p.1581-1586

2008

Volltextzugriff (PDF)

Central neurocytoma: morphological, flow cytometric, polymerase chain reaction, fluorescence in situ hybridization, and karyotypic analyses. Case report

Journal of neurosurgery, 1999-02, Vol.90 (2), p.348-354

1999

Volltextzugriff (PDF)

Genes for immunoglobulin heavy chains and for α1-antitrypsin are localized to specific regions of chromosome 14q

Nature (London), 1982-06, Vol.297 (5865), p.428-430

1982

Volltextzugriff (PDF)

Molecular Genetic Studies of Human Chromosome 7 in Russell–Silver Syndrome

Genomics (San Diego, Calif.), 2002-02, Vol.79 (2), p.186-196

2002

Volltextzugriff (PDF)

Response to correspondence from Gripp et al.-"clinical and molecular diagnosis should be consistent"

American journal of medical genetics. Part A, 2003-09, Vol.122A (1), p.91-91

2003

Volltextzugriff (PDF)

Analysis of chromosome 22q as an aid to the diagnosis of rhabdoid tumor: a case report

The American journal of surgical pathology, 1999-08, Vol.23 (8), p.982

1999

Volltextzugriff (PDF)

Use of multicolor spectral karyotyping in genetic analysis of pleuropulmonary blastoma

Pediatric and developmental pathology, 2000-09, Vol.3 (5), p.479-486

2000

Volltextzugriff (PDF)

Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma

American journal of medical genetics, 2003-07, Vol.120A (1), p.105-109

2003

Volltextzugriff (PDF)

Primary ewing's sarcoma of the skull in children : Utility of molecular diagnostics, surgery and adjuvant therapies

Pediatric neurosurgery, 1999-12, Vol.31 (6), p.307-315

1999

Volltextzugriff (PDF)

Echocardiographic evaluation of the spectrum of cardiac anomalies associated with trisomy 13 and trisomy 18

Journal of the American College of Cardiology, 1990-03, Vol.15 (3), p.673-677

1990

Volltextzugriff (PDF)

Ring chromosome 22 and autism: Report and review

American journal of medical genetics, 2000-02, Vol.90 (5), p.382-385

2000

Volltextzugriff (PDF)

Molecular analysis redefines three human chromosome 14 deletions

Human genetics, 1995-05, Vol.95 (5), p.495-500

1995

Volltextzugriff (PDF)

Molecular analysis of three patients with interstitial deletions of chromosome band 14q31

Journal of medical genetics, 1995-07, Vol.32 (7), p.564-567

1995

Volltextzugriff (PDF)

1 – 25 von 57

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(37)
Mit Volltextzugriff
(47)

Publikationsform

Sprache

Englisch
(57)

Erscheinungsjahr

n.n

Thema

Humans
(40)
Science & Technology
(37)
Life Sciences & Biomedicine
(35)
Female
(29)
Biological And Medical Sciences
(28)
Medical Sciences
(26)
Genetics & Heredity
(22)
Male
(22)
Karyotyping
(19)
In Situ Hybridization, Fluorescence
(15)
Medical Genetics
(15)
Abnormalities, Multiple - Genetics
(13)
Chromosome Aberrations
(12)
Child
(11)
Infant
(11)
Chromosome Deletion
(10)
Child, Preschool
(9)
Infant, Newborn
(8)
Translocation, Genetic
(8)
Chromosome Banding
(7)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

4.3‐Mb triplication of 4q32.1–q32.2: Report of a family through two generations

Malignant hematological disorders in children with Wolf–Hirschhorn syndrome

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2

Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)

Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders

Association of the t(12;22)(q13;q12) EWS/ATF1 rearrangement with polyphenotypic round cell sarcoma of bone: a case report

Peripheral medulloepithelioma: an immunohistochemical, ultrastructural, and cytogenetic study of a rare, chemotherapy-sensitive, pediatric tumor

Association of the t(12;22)(913;912) EWS/ATF1 Rearrangement With Polyphenotypic Round Cell Sarcoma of Bone

Late-appearing Philadelphia chromosome in childhood acute myeloid leukemia

Intrascrotal lipoblastoma with a complex karyotype: a case report and review of the literature

Secondary Cytogenetic Abnormalities and Outcome in Children with TEL-AML1-Positive Acute Lymphoblastic Leukemia

Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depression

Interstitial deletion of 1p22.2p31.1 and medium‐chain acyl‐CoA dehydrogenase deficiency in a patient with global developmental delay

Central neurocytoma: morphological, flow cytometric, polymerase chain reaction, fluorescence in situ hybridization, and karyotypic analyses. Case report

Genes for immunoglobulin heavy chains and for α1-antitrypsin are localized to specific regions of chromosome 14q

Molecular Genetic Studies of Human Chromosome 7 in Russell–Silver Syndrome

Response to correspondence from Gripp et al.-"clinical and molecular diagnosis should be consistent"

Analysis of chromosome 22q as an aid to the diagnosis of rhabdoid tumor: a case report

Use of multicolor spectral karyotyping in genetic analysis of pleuropulmonary blastoma

Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma

Primary ewing's sarcoma of the skull in children : Utility of molecular diagnostics, surgery and adjuvant therapies

Echocardiographic evaluation of the spectrum of cardiac anomalies associated with trisomy 13 and trisomy 18

Ring chromosome 22 and autism: Report and review

Molecular analysis redefines three human chromosome 14 deletions

Molecular analysis of three patients with interstitial deletions of chromosome band 14q31

Suchergebnisse filtern