Results
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124.
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Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia. [electronic resource] by
- Bosco, P
- Cali, F
- Meli, C
- Mollica, F
- Zammarchi, E
- Cerone, R
- Vanni, C
- Palillo, L
- Greco, D
- Romano, V
Producer: 19980429
In:
Human mutation vol. 11
Availability: No items available.
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125.
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126.
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Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe. [electronic resource] by
- Guldberg, P
- Romano, V
- Ceratto, N
- Bosco, P
- Ciuna, M
- Indelicato, A
- Mollica, F
- Meli, C
- Giovannini, M
- Riva, E
Producer: 19940203
In:
Human molecular genetics vol. 2
Availability: No items available.
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127.
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The fragile X in Sicily: an epidemiological survey. [electronic resource] by
- Neri, G
- Sanfilippo, S
- Pavone, L
- Mollica, F
- Barberi, I
- Giuffrè, L
- Romano, C
- Mattina, T
- Cammarata, M
- Ragusa, M G
Producer: 19881108
In:
American journal of medical genetics vol. 30
Availability: No items available.
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128.
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Gilbert's syndrome is a contributory factor in prolonged unconjugated hyperbilirubinemia of the newborn. [electronic resource] by
- Monaghan, G
- McLellan, A
- McGeehan, A
- Li Volti, S
- Mollica, F
- Salemi, I
- Din, Z
- Cassidy, A
- Hume, R
- Burchell, B
Producer: 19990430
In:
The Journal of pediatrics vol. 134
Availability: No items available.
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129.
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RFLP analysis in 5 Sicilian families with the fragile X syndrome. [electronic resource] by
- Romano, V
- Mascali, G
- Chiavetta, V
- Ragusa, R M
- Barletta, C
- Romano, C
- Mollica, F
- Mattina, T
- Gross, A
- Brown, W T
Producer: 19910521
In:
American journal of medical genetics vol. 38
Availability: No items available.
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130.
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[Neuropsychic development in children born with spina bifida]. [electronic resource] by
- Piazza, F
- Astori, M G
- Mollica, F
- Locatelli, D
- Pezzotta, S
- Pluderi, C
- Caroli, A
- Santi, L
- Ferrari Ginevra, O
- Lanzi, G
Producer: 19970604
In:
La Pediatria medica e chirurgica : Medical and surgical pediatrics vol. 18
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131.
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Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome. [electronic resource] by
- Renieri, A
- Galli, L
- De Marchi, M
- Li Volti, S
- Mollica, F
- Lupo, A
- Maschio, G
- Peissel, B
- Rossetti, S
- Pignatti, P
Producer: 19940523
In:
Human molecular genetics vol. 3
Availability: No items available.
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132.
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Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp. [electronic resource] by
- Gal, A
- Schinzel, A
- Orth, U
- Fraser, N A
- Mollica, F
- Craig, I W
- Kruse, T
- Mächler, M
- Neugebauer, M
- Bleeker-Wagemakers, L M
Producer: 19890512
In:
Human genetics vol. 81
Availability: No items available.
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133.
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Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities. [electronic resource] by
- Dunnill, M G
- Richards, A J
- Milana, G
- Mollica, F
- Atherton, D
- Winship, I
- Farrall, M
- al-Imara, L
- Eady, R A
- Pope, F M
Producer: 19950224
In:
Journal of medical genetics vol. 31
Availability: No items available.
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134.
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Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FH Siracusa and FH Reggio Emilia). [electronic resource] by
- Garuti, R
- Lelli, N
- Barozzini, M
- Tiozzo, R
- Ghisellini, M
- Simone, M L
- Li Volti, S
- Garozzo, R
- Mollica, F
- Vergoni, W
- Bertolini, S
- Calandra, S
Producer: 19960815
In:
Atherosclerosis vol. 121
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135.
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Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens. [electronic resource] by
- Attardo, T
- Vicari, E
- Mollica, F
- Grazioso, C
- Burrello, N
- Garofalo, M R
- Lizzio, M N
- Garigali, G
- Cannizzaro, M
- Ruvolo, G
- D'Agata, R
- Calogero, A E
Producer: 20010705
In:
International journal of andrology vol. 24
Availability: No items available.
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136.
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PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population. [electronic resource] by
- Romano, V
- Guldberg, P
- Güttler, F
- Meli, C
- Mollica, F
- Pavone, L
- Giovannini, M
- Riva, E
- Biasucci, G
- Luotti, D
- Palillo, L
- Calí, F
- Ceratto, N
- Anello, G
- Bosco, P
Producer: 19961017
In:
Journal of inherited metabolic disease vol. 19
Availability: No items available.
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137.
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Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. [electronic resource] by
- Wuyts, W
- Van Hul, W
- De Boulle, K
- Hendrickx, J
- Bakker, E
- Vanhoenacker, F
- Mollica, F
- Lüdecke, H J
- Sayli, B S
- Pazzaglia, U E
- Mortier, G
- Hamel, B
- Conrad, E U
- Matsushita, M
- Raskind, W H
- Willems, P J
Producer: 19980406
In:
American journal of human genetics vol. 62
Availability: No items available.
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