Detalhe da pesquisa
1.
Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Clin Genet
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38774940
2.
A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia.
Neurogenetics
; 24(1): 55-60, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36190665
3.
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
J Hum Genet
; 65(2): 187-192, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31656313
4.
Identification of Areas for Improvement in the Management of Bone Metastases in Patients with Neuroendocrine Neoplasms.
Neuroendocrinology
; 110(7-8): 688-696, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31639796
5.
What is the role of a specialist hair clinic? The impact and patient experience from a regional NHS specialist hair clinic.
Clin Exp Dermatol
; 48(1): 36-38, 2023 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669178
6.
Correction: Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
J Hum Genet
; 67(3): 181, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34526652
7.
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.
BMC Med Genet
; 17: 13, 2016 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26880286
8.
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly.
Mol Syndromol
; 14(3): 201-207, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37323198
9.
Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux.
BMC Med Genet
; 13: 44, 2012 Jun 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-22691581
10.
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.
Eur J Hum Genet
; 30(1): 22-33, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34135477
11.
A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction.
Eur J Med Genet
; 62(4): 278-281, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30107244
12.
Neurogenic pulmonary oedema complicating a lateral medullary infarct.
BMJ Case Rep
; 20182018 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30054324
13.
Enhanced imaging of lipid rich nanoparticles embedded in methylcellulose films for transmission electron microscopy using mixtures of heavy metals.
Micron
; 99: 40-48, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28419915
14.
Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.
Congenit Anom (Kyoto)
; 57(2): 45-51, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27577507
15.
In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis.
PLoS One
; 9(8): e104756, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25119526
16.
Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families.
Eur J Dermatol
; 26(6): 610-612, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27456782
17.
Genetic analysis of Xp22.3 micro-deletions in seventeen families segregating isolated form of X-linked ichthyosis.
J Dermatol Sci
; 80(3): 214-7, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26481779