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1 . Academic Journal
EYA1-related disorders: Two clinical cases and a literature review
저자
by
Castiglione, Alessandro
;
Melchionda, Salvatore
;
Carella, Massimo
;
Trevisi, Patrizia
;
Bovo, Roberto
, et al.
소스
In
International Journal of Pediatric Otorhinolaryngology
August 2014 78(8):1201-1210
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7 . Academic Journal
Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family.
저자
by
Ortore, Rocco Pio
;
Leone, Maria Pia
;
Palumbo, Orazio
;
Petracca, Antonio
;
Trecca, Eleonora M. C.
, et al.
소스
Audiology Research
. 2021, Vol. 11 Issue 3, p443-451. 9p.
Scopus
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7 . Academic Journal
Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss
저자
by
Cama, Elona
;
Alemanno, Maria Stella
;
Bellacchio, Emanuele
;
Santarelli, Rosamaria
;
Carella, Massimo
, et al.
소스
In
International Journal of Pediatric Otorhinolaryngology
2009 73(10):1458-1463
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7 . Academic Journal
A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family
저자
by
Alemanno, Maria Stella
;
Cama, Elona
;
Santarelli, Rosamaria
;
Carella, Massimo
;
Zelante, Leopoldo
, et al.
소스
In
International Journal of Pediatric Otorhinolaryngology
2009 73(1):127-131
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7 . Periodical
Could the interaction between LMX1Band PAX2influence the severity of renal symptoms?
저자
by
Negrisolo, Susanna
;
Carraro, Andrea
;
Fregonese, Giulia
;
Benetti, Elisa
;
Schaefer, Franz
, et al.
소스
European Journal of Human Genetics: EJHG; November 2018, Vol. 26 Issue: 11 p1708-1712, 5p
Web of Science
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7 . Academic Journal
Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.
저자
by
Leone, Maria Pia
;
Palumbo, Pietro
;
Ortore, Rocco
;
Castellana, Stefano
;
Palumbo, Orazio
, et al.
소스
Molecular & Cellular Probes
. Jun2017, Vol. 33, p24-27. 4p.
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7 . Academic Journal
Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms?
저자
by
Negrisolo, Susanna
;
Carraro, Andrea
;
Fregonese, Giulia
;
Benetti, Elisa
;
Schaefer, Franz
, et al.
소스
European Journal of Human Genetics
. 26(11):1708-1712
Web of Science
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7 . Periodical
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1mutations by sanger sequencing and MLPA analysis
저자
by
Melchionda, Salvatore
;
Palladino, Teresa
;
Castellana, Stefano
;
Giordano, Mario
;
Benetti, Elisa
, et al.
소스
Journal of Human Genetics; September 2016, Vol. 61 Issue: 9 p811-821, 11p
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7 . Academic Journal
Patient affected by neurofibromatosis type 1 and thyroid C-cell hyperplasia harboring pathogenic germ-line mutations in both NF1 and RET genes.
저자
by
Ercolino, Tonino
;
Lai, Roberta
;
Giachè, Valentino
;
Melchionda, Salvatore
;
Carella, Massimo
, et al.
소스
Gene
. Feb2014, Vol. 536 Issue 2, p332-335. 4p.
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7 . Academic Journal
Are MYO1C and MYO1F associated with hearing loss?
저자
by
Zadro, Cristina
;
Alemanno, Maria Stella
;
Bellacchio, Emanuele
;
Ficarella, Romina
;
Donaudy, Francesca
, et al.
소스
BBA: Molecular Basis of Disease
. Jan2009, Vol. 1792 Issue 1, p27-32. 6p.
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