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MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions
by
Laperuta, Carmela
,
Spizzichino, Letizia
,
D'Adamo, Pio
,
Monfregola, Jlenia
,
Maiorino, Antonio
,
D'Eustacchio, Angela
,
Ventruto, Valerio
,
Neri, Giovanni
,
D'Urso, Michele
,
Chiurazzi, Pietro
,
Ursini, Matilde Valeria
,
Miano, Maria Giuseppina
Published in
BMC medical genetics
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Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report
by
Miano, Maria Giuseppina
,
Laperuta, Carmela
,
Chiurazzi, Pietro
,
D'Urso, Michele
,
Ursini, Matilde Valeria
Published in
BMC medical genetics
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Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2–q28 associated with ovarian dysfunction
by
Fimiani, Giorgia
,
Laperuta, Carmela
,
Falco, Geppino
,
Ventruto, Valerio
,
D’Urso, Michele
,
Ursini, Matilde Valeria
,
Miano, Maria Giuseppina
Published in
Human reproduction (Oxford)
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MRX87 family with Aristaless Xdup24bp mutation and implication for polyAlanine expansions
by
Laperuta, Carmela
,
Spizzichino, Letizia
,
D'Adamo, Pio
,
Monfregola, Jlenia
,
Maiorino, Antonio
,
D'Eustacchio, Angela
,
Ventruto, Valerio
,
Neri, Giovanni
,
D'Urso, Michele
,
Chiurazzi, Pietro
,
Ursini, Matilde Valeria
,
Miano, Maria Giuseppina
Published in
BMC medical genetics
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Bmc Medical Genetics
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Life Sciences & Biomedicine
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Pedigree
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Primary Ovarian Insufficiency - Genetics
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X Chromosome Inactivation
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Alanine
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