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Mandarà, Giuseppa Maria Luana
10  Ergebnisse:
Personensuche X
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1

Identification of a Novel FOXP1 Variant in a Patient with H..:

Benvenuto, Mario ; Palumbo, Pietro ; Di Muro, Ester...
Genes.  14 (2023)  10 - p. 1958 , 2023
Link: https://doi.org/10.3390/..
 
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2

A Multiplex PCR-Based Next-Generation Sequencing Approach H..:

Calì, Francesco ; Mandarà, Giuseppa Maria Luana ; Ruggeri, Giuseppa...
Journal of Biomedical Science and Engineering.  9 (2016)  7 - p. 337-341 , 2016
Link: https://doi.org/10.4236/..
 
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3

A new variant of phosphoglycerate kinase deficiency (p.I371..:

Fermo, Elisa ; Bianchi, Paola ; Chiarelli, Laurent Roberto...
Molecular Genetics and Metabolism.  106 (2012)  4 - p. 455-461 , 2012
Link: https://doi.org/10.1016/..
 
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4

Assortative mating and parental genetic relatedness contrib..:

Smolen, Corrine ; Jensen, Matthew ; Dyer, Lisa...
The American Journal of Human Genetics.  110 (2023)  12 - p. 2015-2028 , 2023
Link: https://doi.org/10.1016/..
 
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5

Mutation spectrum of NF1 gene in Italian patients with neur..:

Calì, Francesco ; Chiavetta, Valeria ; Ruggeri, Giuseppa...
European Journal of Medical Genetics.  60 (2017)  2 - p. 93-99 , 2017
Link: https://doi.org/10.1016/..
 
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6

Assortative mating and parental genetic relatedness drive t..:

Smolen, Corrine ; Jensen, Matthew ; Dyer, Lisa...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10246151/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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7

Identification of a Novel FOXP1 Variant in a Patient with H..:

Mario Benvenuto ; Pietro Palumbo ; Ester Di Muro...
https://www.mdpi.com/2073-4425/14/10/1958.  , 2023
Link: https://doi.org/10.3390/..
 
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8

NGS study in a sicilian case series with a genetic diagnosi..:

Salemi, Michele ; Mandarà, Luana G.M. ; Salluzzo, Maria Grazia...
Molecular Biology Reports.  50 (2023)  11 - p. 9715-9720 , 2023
Link: https://doi.org/10.1007/..
 
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9

Kisspeptin/GnRH1 system in Leydig cells of horse (Equus cab..:

Petrucci, Linda ; Maranesi, Margherita ; Verini Supplizi, Andrea...
Theriogenology.  152 (2020)  - p. 1-7 , 2020
Link: https://doi.org/10.1016/..
 
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10

JAG1 Loss-Of-Function Variations as a Novel Predisposing Ev..:

de Filippis, Tiziana ; Marelli, Federica ; Nebbia, Gabriella...
The Journal of Clinical Endocrinology & Metabolism.  101 (2016)  3 - p. 861-870 , 2016
Link: https://doi.org/10.1210/..
 
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