Sfoglia per Autore
Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome
1982-01-01 Silengo MC; Davi GF; Bianco R; Costa M; DeMarco A; Verona R; Franceschini P
Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation
1983-01-01 Franceschini P; Cirillo Silengo M; Davi G; Bianco R; Biagioli M
Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies
1983-01-01 Franceschini P; Cirillo Silengo M; Davi G; Bianco R; Biagioli M
Kniest disease with Pierre Robin syndrome and hydrocephalus
1983-01-01 Cirillo Silengo M; Davi GF; Bianco R; DeMarco A; Franceschini P.
The Neu-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case
1984-01-01 Silengo MC; Davi G; Bianco R; Biagioli M; Franceschini P; Cavallo M; Bussi G
Sindrome di Beckwith-Wiedemann: descrizione di due casi clinici.
1984-01-01 Tovo PA; Martino S; Roncarolo MG; Palomba E; Incarbone E; Franceschini P; Silengo M; Davi G; Binco R; Frigerio M.
Interstitial deletion of chromosome 1 (q23-q25). Report of a case.
1984-01-01 Silengo MC; Davi GF; Bianco R; Biagioli M; Guala A; Franceschini P; Novelli G
The Coffin-Siris Syndrome in two sibblings
1986-01-01 Franceschini P; Cirillo Silengo M; Bianco R; Biagilo M; Guala A; Lopez Bell G
Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity
1986-01-01 Silengo MC; Bell GL; Biagioli M; Guala A; Bianco R; Strandoni P; De Sario PN; Franceschini P
Distinctive skeletal dysplasia in Cockayne syndrome
1986-01-01 Cirillo Silengo M; Franceschini P; Bianco R; Biagioli M; Pastorin L; Baldassar A; Benso L
Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases
1987-01-01 Silengo MC; Bell GL; Biagioli M; Franceschini P
Genetic aspects of the adrenogenital syndrome
1987-01-01 Franceschini P; Silengo M
Triphalangeal thumb and brachy-ectrodactyly syndrome. Confirmation of autosomal dominant inheritance
1987-01-01 Silengo MC; Biagioli M; Bell GL; Bona G; Franceschini P
A new syndrome with ocular, skeletal and renal involvement
1987-01-01 Cirillo Silengo M;Lopez Bell G; Biagioli M; Guala A; Porcellini G; Franceschini P
Sindrome di Dyggve-Melchior-Clausen. Descrizione di due nuovi casi clinici. (Dyggve-Melchior-Clausen syndrome. Report of two new cases).
1988-01-01 Biagioli M; Cirillo Silengo M; Lopez Bell G; Oggero R; Mostert M; Matarazzo P; Franceschini P.
Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism.
1988-01-01 Silengo MC; Lopez Bell G; Biagioli M; Franceschini P
X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene
1988-01-01 Ballabio A; Parenti G; Carrozzo R; Coppa G; Felici L; Migliori V; Silengo M; Franceschini P; Andria G.
Postmortem Menkes diagnosis from carrier testing of female relatives
1988-01-01 Tønnesen T; Silengo M; Gerdes AM; Hansen JC; Reske-Nielsen E; Franceschini P; Horn N
Inherited diseases of the connective tissue
1989-01-01 Silengo M; Lerone M
Thumb triphalangeal-Brachyectrodactyly
1990-01-01 Silengo M; Franceschini P
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