skip to main content
Primo Advanced Search
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search Query Term
Primo Advanced Search prefilters
Mostrar Somente
Refinado por: assunto: Child remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome : report of two new patients and review of the literature
Material Type:
Artigo
Adicionar ao Meu Espaço

Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome : report of two new patients and review of the literature

FRANCESCHINI, P ; MARTINO, S ; CIOCCHINI, M ; CIUTI, E ; VARDEU, M. P ; GUALA, A ; SIGNORILE, F ; CAMERANO, P ; FRANCESCHINI, D ; TOVO, P. A

European journal of pediatrics, 1995-10, Vol.154 (10), p.840-846 [Periódico revisado por pares]

Heidelberg: Springer

Texto completo disponível

2
Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity
Material Type:
Artigo
Adicionar ao Meu Espaço

Wolcott-rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

SENEE, Valérie ; VATTEM, Krishna M ; MICHAUD, Jacques L ; BIN-ABBAS, Bassan ; TAHA, Doris ; ZABEL, Bernard ; FRANCESCHINI, Piergiorgio ; TOPALOGLU, A. Kemal ; LATHROP, G. Mark ; BARRETT, Timothy G ; NICOLINO, Marc ; WEK, Ronald C ; DELEPINE, Marc ; JULIER, Cécile ; RAINBOW, Lynn A ; HATON, Céline ; LECOQ, Annick ; SHAW, Nick J ; ROBERT, Jean-Jacques ; ROOMAN, Raoul ; DIATLOFF-ZITO, Catherine

Diabetes (New York, N.Y.), 2004-07, Vol.53 (7), p.1876-1883 [Periódico revisado por pares]

Alexandria, VA: American Diabetes Association

Texto completo disponível

3
Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation
Material Type:
Artigo
Adicionar ao Meu Espaço

Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation

Franceschini, P ; Cirillo Silengo, M ; Davi, G ; Bianco, R ; Biagioli, M

Human genetics, 1983-01, Vol.64 (1), p.98-98 [Periódico revisado por pares]

Germany

Texto completo disponível

4
Peculiar facial appearance and generalized brachydactyly in a patient with congenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome)
Material Type:
Artigo
Adicionar ao Meu Espaço

Peculiar facial appearance and generalized brachydactyly in a patient with congenital onychodysplasia of the index fingers (Iso-Kikuchi syndrome)

Franceschini, P. ; Licata, D. ; Guala, A. ; Di Cara, G. ; Franceschini, D.

American journal of medical genetics, 2001-02, Vol.98 (4), p.330-335

New York: John Wiley & Sons, Inc

Texto completo disponível

5
Bladder carcinoma in Costello syndrome: Report on a patient born to consanguineous parents and review
Material Type:
Artigo
Adicionar ao Meu Espaço

Bladder carcinoma in Costello syndrome: Report on a patient born to consanguineous parents and review

Franceschini, P. ; Licata, D. ; Di Cara, G. ; Guala, A. ; Bianchi, M. ; Ingrosso, G. ; Franceschini, D.

American journal of medical genetics, 1999-09, Vol.86 (2), p.174-179

New York: Wiley Subscription Services, Inc., A Wiley Company

Texto completo disponível

6
Pseudo-pseudohermaphroditism and Multiple Neurofibromatosis
Material Type:
Artigo
Adicionar ao Meu Espaço

Pseudo-pseudohermaphroditism and Multiple Neurofibromatosis

Franceschini, P. ; Silengo, M. ; Davi, G.F.

The Journal of urology, 1978-09, Vol.120 (3), p.388-389 [Periódico revisado por pares]

United States: Elsevier Inc

Texto completo disponível

7
Radiological features in trisomy 8
Material Type:
Artigo
Adicionar ao Meu Espaço

Radiological features in trisomy 8

Silengo, M C ; Davi, G F ; Franceschini, P

Pediatric radiology, 1979-04, Vol.8 (2), p.116-118 [Periódico revisado por pares]

Germany

Texto completo disponível

8
The Williams syndrome: an Italian collaborative study
Material Type:
Artigo
Adicionar ao Meu Espaço

The Williams syndrome: an Italian collaborative study

Franceschini, P ; Guala, A ; Vardeu, M P ; Signorile, F ; Franceschini, D ; Mastroiacovo, P ; Gianotti, A ; Livini, E ; Lalatta, F ; Selicorni, A ; Andria, G ; Scarano, G ; Della Monica, M ; Rizzo, R ; Zelante, L ; Stabile, M ; Gabrielli, O ; Neri, G

Minerva pediatrica, 1996-10, Vol.48 (10), p.421-428

Italy

Texto completo disponível

9
Patterson–Lowry rhizomelic dysplasia: Report of two new patients
Material Type:
Artigo
Adicionar ao Meu Espaço

Patterson–Lowry rhizomelic dysplasia: Report of two new patients

Franceschini, Piergiorgio ; Licata, D. ; Guala, A. ; Ingrosso, G. ; Di Cara, G. ; Franceschini, D.

American journal of medical genetics, 2004-05, Vol.127A (1), p.86-92 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Texto completo disponível

10
Variability of the Brachmann-de Lange Syndrome
Material Type:
Artigo
Adicionar ao Meu Espaço

Variability of the Brachmann-de Lange Syndrome

Selicorni, A. ; Lalatta, F. ; Livini, E. ; Briscioli, V. ; Piguzzi, T. ; Bagozzi, D. Clerici ; Mastroiacovo, P. ; Zampino, G. ; Gaeta, G. ; Pugliese, A. ; Cerutti-Mainaroli, P. ; Guala, A. ; Zelante, L. ; Stabile, M. ; Belli, S. ; Franceschini, P. ; Gianotti, A. ; Scarano, G.

American journal of medical genetics, 1993-11, Vol.47 (7), p.977-982

New York: Wiley Subscription Services, Inc., A Wiley Company

Texto completo disponível

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Revistas revisadas por pares (8)

Data de Publicação 

De até
  1. Antes de1971  (3)
  2. 1971Até1977  (2)
  3. 1978Até1982  (3)
  4. 1983Até1995  (3)
  5. Após 1995  (8)
  6. Mais opções open sub menu

Idioma 

  1. Inglês  (14)
  2. Italiano  (4)
  3. Mais opções open sub menu

Buscando em bases de dados remotas. Favor aguardar.