Carla Borrone: search on Z-Library

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1

Retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia (RHYNS): A new syndrome?

Di Rocco, Maja, Picco, Paolo, Arslanian, Araxi, Restagno, Gabriella, Perfumo, Francesco, Buoncompagni, Antonella, Gattorno, Marco, Borrone, Carla

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 236 KB

english, 1997

2

Fucosidosis: Clinical, biochemical, immunologic, and genetic studies in two new cases

Carla Borrone, Rosanna Gatti, Xavier Trias, Paolo Durand

Journal:

The Journal of Pediatrics

Year:

1974

Language:

english

File:

PDF, 1.20 MB

english, 1974

3

9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene

Carbonara, Caterina, Longa, Lucia, Grosso, Enrico, Borrone, Carla, Garré, Maria Grazia, Brisigotti, Massimo, Migone, Nicola

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 1.19 MB

english, 1994

4

ANOTHER CHANCE FOR THALIDOMIDE?

Mainardi, PaolaCerruti, Borrone, Carla, Tambussi, AnnaMaria

Journal:

Year:

1966

Language:

english

File:

PDF, 177 KB

english, 1966

5

Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation

Dr Corrado Angelini, Michel Philippart, Carla Borrone, Nereo Bresolin, Marcello Cantini, Sandra Lucke

Journal:

Annals of Neurology

Year:

1980

Language:

english

File:

PDF, 839 KB

english, 1980

6

Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas

Caterina Carbonara, Lucia Longa, Enrico Grosso, Gianna Mazzucco, Carla Borrone, Maria Luisa Garrè, Massimo Brisigotti, Giorgio Filippi, Aldo Scabar, Aldo Giannotti, Piero Falzoni, Guido Monga, Gianni

Journal:

Genes, Chromosomes and Cancer

Year:

1996

Language:

english

File:

PDF, 682 KB

english, 1996

7

Primary hypothyroidism as a consequence of 131 -I-metaiodobenzylguanidine treatment for children with neuroblastoma

Paolo Picco, Alberto Garaventa, Franco Claudiani, Marco Gattorno, Bruno De Bernardi, Carla Borrone

Journal:

Year:

1995

Language:

english

File:

PDF, 311 KB

english, 1995

8

Report on two patients with Costello syndrome and sialuria

Maja Di Rocco, Rosanna Gatti, Paolo Gandullia, Arrigo Barabino, Paolo Picco, Carla Borrone

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 537 KB

english, 1993

9

FUCOSIDOSIS IN CALABRIA: FOUNDER EFFECT OR HIGH GENE FREQUENCY?

Romeo, Giovanni, Borrone, Carla, Gatti, Rosanna, Durand, Paolo

Journal:

Year:

1977

Language:

english

File:

PDF, 268 KB

english, 1977

10

Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency

Luigi Garibaldi, Andrea Superti-Furga, Carla Borrone

Journal:

The Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 185 KB

english, 1986

11

New spectrophotometric assays of acid lipase and their use in the diagnosis of wolman and cholesteryl ester storage diseases

Anne Nègre, Robert Salvayre, Arie Dagan, Carla Borrone, Shimon Gatt

Journal:

Analytical Biochemistry

Year:

1985

Language:

english

File:

PDF, 572 KB

english, 1985

12

Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome

Nelson, Isabelle, Degoul, Françoise, Obermaier-kusser, Bert, Romero, Norma, Borrone, Carla, Marsac, Cécile, Vayssiere, Jean-Luc, Gerbitz, K., Fardeau, Michel, Ponsot, Gérard, Lestienne, Patrick

Journal:

Nucleic Acids Research

Year:

1989

Language:

english

File:

PDF, 2.40 MB

english, 1989

13

Primary hypothyroidism and 131I-MIBG therapy In neuroblastoma

Paolo Picco, Alberto Garaventa, Franco Claudiani, Luigi Garibaldi, Carla Borrone

Journal:

Year:

1993

Language:

english

File:

PDF, 165 KB

english, 1993

14

Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency

Luigi R. Garibaldi, Silvana Canini, Andrea Superti-Furga, Giuseppe Lamedica, Mirella Filocamo, Nora Marchese, Carla Borrone

Journal:

The Journal of Pediatrics

Year:

1983

Language:

english

File:

PDF, 363 KB

english, 1983

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