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1
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review
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Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review

Rossi, Massimiliano ; Vajro, Pietro ; Iorio, Raffaele ; Battagliese, Antonella ; Brunetti-Pierri, Nicola ; Corso, Gaetano ; Di Rocco, Maja ; Ferrari, Paola ; Rivasi, Francesco ; Vecchione, Raffaella ; Andria, Generoso ; Parenti, Giancarlo

American journal of medical genetics, 2005-01, Vol.132A (2), p.144-151 [Periódico revisado por pares]

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

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2
New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia
New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia
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New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia

Pierri, Nicola Brunetti ; Lecora, Margherita ; Passariello, Annalisa ; Scala, Iris ; Andria, Generoso

American journal of medical genetics, 2000-03, Vol.91 (2), p.123-125

New York: John Wiley & Sons, Inc

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3
New case of the Richieri-Costa/Guion-Almeid syndrome
New case of the Richieri-Costa/Guion-Almeid syndrome
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New case of the Richieri-Costa/Guion-Almeid syndrome

NATACCI, F ; PIERRI, M ; ROSSETTI, M ; SALA, M ; LARIZZA, L

American journal of medical genetics, 1999, Vol.83 (5), p.419-421

New York, NY: Wiley-Liss

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4
New case of the Richieri-Costa/Guion-Almeida syndrome
New case of the Richieri-Costa/Guion-Almeida syndrome
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New case of the Richieri-Costa/Guion-Almeida syndrome

Natacci, F. ; Pierri, M. ; Rossetti, M. ; Sala, M. ; Larizza, L.

American journal of medical genetics, 1999-04, Vol.83 (5), p.419-421

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

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5
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype
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Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype

Natacci, F. ; Corrado, L. ; Pierri, M. ; Rossetti, M. ; Zuccarini, C. ; Riva, P. ; Miozzo, M. ; Larizza, L.

American journal of medical genetics, 2000-12, Vol.95 (5), p.467-472

New York: John Wiley & Sons, Inc

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6
Premature thelarche in Coffin-Siris syndrome
Premature thelarche in Coffin-Siris syndrome
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Premature thelarche in Coffin-Siris syndrome

Brunetti-Pierri, Nicola ; Esposito, Valentina ; Salerno, Mariacarolina

American journal of medical genetics, 2003-08, Vol.121A (2), p.174-176 [Periódico revisado por pares]

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

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7
von Voss‐Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development
von Voss‐Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development
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von Voss‐Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development

Brunetti‐Pierri, Nicola ; Mendoza‐Londono, Roberto ; Shah, Maulik R. ; Karaviti, Lefkothea ; Lee, Brendan

American journal of medical genetics, 2004-04, Vol.126A (3), p.299-302 [Periódico revisado por pares]

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

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8
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene
X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene
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X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene

Parenti, Giancarlo ; Buttitta, Piera ; Meroni, Germana ; Franco, Brunella ; Bernard, Loris ; Rizzolo, Maria Grazia ; Brunetti-Pierri, Nicola ; Ballabio, Andrea ; Andria, Generoso

American journal of medical genetics, 1997-12, Vol.73 (2), p.139-143

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

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9
X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability
X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability
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X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability

Brunetti-Pierri, Nicola ; Andreucci, Maria Vittoria ; Tuzzi, Rosaria ; Vega, Giovanna Roberta ; Gray, George ; McKeown, Carol ; Ballabio, Andrea ; Andria, Generoso ; Meroni, Germana ; Parenti, Giancarlo

American journal of medical genetics, 2003-03, Vol.117A (2), p.164-168 [Periódico revisado por pares]

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

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