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1.
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
Am J Med Genet A
; 176(2): 391-398, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29193617
2.
Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.
Mol Cell Probes
; 33: 24-27, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28263784
3.
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
J Hum Genet
; 61(9): 811-21, 2016 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-27225849
4.
Microdeletion of 12q24.31: report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.
Am J Med Genet A
; 167A(2): 438-44, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25428890
5.
Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.
Nephrol Dial Transplant
; 29(10): 1902-9, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25104082
6.
An emerging phenotype of interstitial 15q25.2 microdeletions: clinical report and review.
Am J Med Genet A
; 158A(12): 3182-9, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23166063
7.
Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay.
Am J Med Genet A
; 167A(9): 2219-22, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25994769
8.
The Telematic solutions in plastic surgery during COVID-19 pandemic.
Acta Biomed
; 91(3): ahead of print, 2020 07 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-32921744
9.
A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family.
Int J Pediatr Otorhinolaryngol
; 73(1): 127-31, 2009 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18990456
10.
Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.
Int J Audiol
; 48(1): 12-7, 2009 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-19173109
11.
Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.
Eur J Med Genet
; 61(5): 248-252, 2018 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-29274487
12.
[Percutaneous treatment of complex post-myocardial infarction ventricular septal defect: case report and literature review]. / Trattamento percutaneo multi-step di un ampio difetto del setto interventricolare post-infartuale: descrizione di un caso clinico e revisione della letteratura.
G Ital Cardiol (Rome)
; 18(2): 159-163, 2017 Feb.
Artículo
en Italiano
| MEDLINE | ID: mdl-28398369
13.
[OssERvare Project: direct observation of use of the Safety Surgery CheckList in the operating room.] / Progetto OssERvare: osservazione diretta dell'uso della Safety Surgery Checklist in sala operatoria.
Recenti Prog Med
; 108(11): 476-480, 2017 Nov.
Artículo
en Italiano
| MEDLINE | ID: mdl-29149164
14.
Clinical and molecular characterization of a de novo 19p13.3 microdeletion.
Mol Cytogenet
; 9: 40, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27239227
15.
PARK2 Microduplication: Clinical and Molecular Characterization of a Further Case and Review of the Literature.
Mol Syndromol
; 7(5): 282-286, 2016 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-27867343
16.
8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature.
Gene
; 513(1): 209-13, 2013 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-23142376
17.
3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.
Gene
; 516(1): 107-13, 2013 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-23287644
18.
A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report.
Mol Cytogenet
; 5(1): 1, 2012 Jan 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-22214275
19.
Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.
Int J Pediatr Otorhinolaryngol
; 73(10): 1458-63, 2009 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-19615760
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