Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist gegebenenfalls nur via VPN oder Shibboleth (DFN-AAI) möglich. mehr Informationen...
Sortiert nach
Open Access
    Datensatz exportieren als...
  • BibTeX
Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome
American journal of medical genetics, 2005-02, Vol.132A (4), p.381-385
2005
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Insights from genomic microarrays into structural chromosome rearrangements
American journal of medical genetics, 2005-01, Vol.132A (1), p.36-40
2005
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Constitutive heterochromatin of chromosome 1 and Duffy blood group alleles in schizophrenia
American journal of medical genetics, 1995-04, Vol.60 (2), p.133-138
1995
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
A dysmorphic boy with 4qter deletion and 4q32.3‐34.3 duplication: Clinical, cytogenetic, and molecular findings
American journal of medical genetics, 2004-12, Vol.131A (2), p.186-189
2004
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy
American journal of medical genetics, 2004-07, Vol.128A (2), p.214-216
2004
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2)
American journal of medical genetics, 2004-10, Vol.130A (2), p.200-203
2004
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Support for linkage of autism and specific language impairment to 7q3 from two chromosome rearrangements involving band 7q31
American journal of medical genetics, 2000-04, Vol.96 (2), p.228-234
2000
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications
American journal of medical genetics, 2003-03, Vol.117A (3), p.251-254
2003
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Association of partial trisomy 9p and the Dandy-Walker malformation
American journal of medical genetics, 2005-01, Vol.132A (1), p.111-112
2005
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Three patients with terminal deletions within the subtelomeric region of chromosome 9q
American journal of medical genetics, 2005-02, Vol.132A (4), p.425-430
2005
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Familial interstitial duplication of 11q; partial trisomy (11)(q13.5q21)
American journal of medical genetics, 2004-05, Vol.126A (4), p.423-426
2004
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3
American journal of medical genetics, 2005-02, Vol.132A (4), p.402-410
2005
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
De novo 1q32q44 duplication and distal 1q trisomy syndrome
American journal of medical genetics, 2003-07, Vol.120A (2), p.229-233
2003
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Supernumerary ring chromosome 7 mosaicism: Case report, investigation of the gene content, and delineation of the phenotype
American journal of medical genetics, 2005-01, Vol.132A (1), p.93-100
2005
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Duplication of the distal long arm of chromosome 15: Report of three new patients and review of the literature
American journal of medical genetics, 2004-05, Vol.126A (4), p.398-402
2004
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6
American journal of medical genetics. Part A, 2004-01, Vol.124A (3), p.280-287
2004
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Interstitial deletion 9q22.32‐q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin–Goltz syndrome and features of Nail‐Patella syndrome
American journal of medical genetics, 2004-01, Vol.124A (2), p.179-191
2004
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Inv dup del(4)(:p14 → p16.3::p16.3 → qter) with manifestations of partial duplication 4p and Wolf‐Hirschhorn syndrome
American journal of medical genetics, 2003-07, Vol.120A (1), p.123-126
2003
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Two new cases of analphoid marker chromosomes
American journal of medical genetics, 2003-01, Vol.116A (3), p.284-289
2003
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation
American journal of medical genetics. Part A, 2004-01, Vol.124A (3), p.259-262
2004
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q
American journal of medical genetics, 2003-07, Vol.120A (1), p.127-135
2003
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype
American journal of medical genetics, 2003-04, Vol.118A (2), p.122-126
2003
Volltextzugriff (PDF)
Open Access
    Datensatz exportieren als...
  • BibTeX
Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter → p12.2)[10]
American journal of medical genetics, 2003-08, Vol.120A (4), p.533-536
2003
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype
American journal of medical genetics, 2003-01, Vol.116A (1), p.71-76
2003
Volltextzugriff (PDF)
    Datensatz exportieren als...
  • BibTeX
Zimmermann–Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: Molecular cytogenetic characterization of the breakpoint regions
American journal of medical genetics, 2003-03, Vol.117A (3), p.289-294
2003
Volltextzugriff (PDF)
1 – 25 von 704
Suche als RSS-Feed
Aktive Filter
Zeitschrift / SerieAmerican Journal Of Medical Genetics
Suchergebnisse filtern
Filter anzeigen