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GENETIC COUNSELING
Rivista
Codice:
E069757
ISSN:
1015-8146
Dati Generali
Dati Generali
Pubblicazioni (7)
A FAMILY WITH SEGREGATION OF AN UNBALANCED TRANSLOCATION (7;13)(q36;q32) IN THREE PATIENTS WITH SEVERE MENTAL RETARDATION, MICROCEPHALY AND DYSMORPHIC FEATURES, DETECTED BY SUBTELOMERE FISH: COUNSELLING AND PRENATAL DIAGNOSIS
Articolo
A family with segregation of an unbalanced translocation (7;13) (q36;q32) in three patients with severe mental retardation, microcephaly and dysmorphic features, detected by subtelomere FISH: genetic counselling and prenatal diagnosis.
Articolo
CRI du chat mosaicism: An unusual case of partial deletion and partial deletion/duplication of the short arm of chromosome 5, leading to an unusual CRI du chat phenotype
Articolo
Cri Du Chat Mosaicism: An Unusual Case Of Partial Deletion And Partial Deletion/Duplication Of The Short Arm Of Chromosome 5,Leading To An Unusual Cri Du Chat Phenotype
Articolo
Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome
Articolo
Duplication of the terminal band of the long arm of chromosome 7: a new case
Articolo
Partial proximal trisomy 10q syndrome: a new case.
Articolo
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