UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 35

Sortiert nach

Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia

Nature genetics, 2004-10, Vol.36 (10), p.1084-1089

2004

Volltextzugriff (PDF)

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Journal of medical genetics, 2009-04, Vol.46 (4), p.223-232

2009

Volltextzugriff (PDF)

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

Journal of medical genetics, 2008-02, Vol.45 (2), p.71-80

2008

Volltextzugriff (PDF)

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Journal of medical genetics, 2009-08, Vol.46 (8), p.524-530

2009

Volltextzugriff (PDF)

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

Journal of medical genetics, 2004-09, Vol.41 (9), p.691-698

2004

Volltextzugriff (PDF)

Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated

Clinical genetics, 2012-06, Vol.81 (6), p.584-589

2012

Volltextzugriff (PDF)

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

Journal of medical genetics, 2010-02, Vol.47 (2), p.103-111

2010

Volltextzugriff (PDF)

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Journal of medical genetics, 2007-12, Vol.44 (12), p.750-762

2007

Volltextzugriff (PDF)

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

Journal of medical genetics, 2010-08, Vol.47 (8), p.569-574

2010

Volltextzugriff (PDF)

Preimplantation genetic diagnosis for an insertional translocation carrier

Human reproduction (Oxford), 2004-12, Vol.19 (12), p.2777-2783

2004

Volltextzugriff (PDF)

De novo interstitial tandem duplication of chromosome 20p12.1p13

American journal of medical genetics, 2003-02, Vol.117A (1), p.76-79

2003

Volltextzugriff (PDF)

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Journal of medical genetics, 2009-08, Vol.46 (8), p.511-523

2009

Volltextzugriff (PDF)

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.33-40

2012

Volltextzugriff (PDF)

Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

American journal of human genetics, 2006-06, Vol.78 (6), p.1066-1074

2006

Volltextzugriff (PDF)

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype

Journal of medical genetics, 2011-02, Vol.48 (2), p.98-104

2011

Volltextzugriff (PDF)

Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Journal of medical genetics, 2010-03, Vol.47 (3), p.155-161

2010

Volltextzugriff (PDF)

Localization by FISH of centric fission breakpoints in a de novo trisomy 9p patient with i(9p) and t(9q;11p)

Genetic counseling, 1998, Vol.9 (3), p.215

1998

Volltextzugriff (PDF)

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

Journal of medical genetics, 2007-09, Vol.44 (9), p.562-jmg

2007

Volltextzugriff (PDF)

Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome

Journal of medical genetics, 1997-05, Vol.34 (5), p.395-399

1997

Volltextzugriff (PDF)

Guidelines for molecular karyotyping in constitutional genetic diagnosis

European journal of human genetics : EJHG, 2007-11, Vol.15 (11), p.1105-1114

2007

Volltextzugriff (PDF)

Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number-Variable Region at Chromosome 4p16

American journal of human genetics, 2008-01, Vol.82 (1), p.181-187

2008

Volltextzugriff (PDF)

Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male

Human genetics, 1999-12, Vol.105 (6), p.611-618

1999

Volltextzugriff (PDF)

A familial complex chromosome translocation resulting in duplication of 6p25

Annales de génétique, 2004-07, Vol.47 (3), p.275-280

2004

Volltextzugriff (PDF)

Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1→q27)

American journal of medical genetics, 2003-07, Vol.120A (2), p.299-300

2003

Volltextzugriff (PDF)

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and m jitiple congenital anomalies : a new series of 140 patients and review of published reports

Journal of medical genetics, 2006, Vol.43 (8), p.625-633

2006

Volltextzugriff (PDF)

1 – 25 von 35

Suche als RSS-Feed

Aktive Filter

ThemaMedical Genetics

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(33)
Mit Volltextzugriff
(34)

Publikationsform

Artikel
(35)

Sprache

Englisch
(35)
Japanisch
(7)

Erscheinungsjahr

n.n

Thema

Biological And Medical Sciences
(35)
Medical Sciences
(35)
Humans
(31)
Life Sciences & Biomedicine
(30)
Science & Technology
(30)
Genetics & Heredity
(29)
Fundamental And Applied Biological Sciences. Psychology
(25)
Genetics Of Eukaryotes. Biological And Molecular Evolution
(25)
General Aspects. Genetic Counseling
(22)
Female
(21)
Male
(21)
Molecular And Cellular Biology
(19)
In Situ Hybridization, Fluorescence
(15)
Chromosome Aberrations
(13)
Patients
(13)
Chromosome Deletion
(12)
Phenotype
(12)
Abnormalities, Multiple - Genetics
(11)
Child
(10)

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map

Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated

Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly

Preimplantation genetic diagnosis for an insertional translocation carrier

De novo interstitial tandem duplication of chromosome 20p12.1p13

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome

Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype

Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Localization by FISH of centric fission breakpoints in a de novo trisomy 9p patient with i(9p) and t(9q;11p)

The C20orf133 gene is disrupted in a patient with Kabuki syndrome

Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome

Guidelines for molecular karyotyping in constitutional genetic diagnosis

Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number-Variable Region at Chromosome 4p16

Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male

A familial complex chromosome translocation resulting in duplication of 6p25

Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1→q27)

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and m jitiple congenital anomalies : a new series of 140 patients and review of published reports

Aktive Filter

Suchergebnisse filtern