Detalhe da pesquisa
1.
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.
Hum Mutat
; 42(1): 89-101, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33252156
2.
Genetic causes of moderate to severe hearing loss point to modifiers.
Clin Genet
; 91(4): 589-598, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-27573290
3.
Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan.
Eur Arch Otorhinolaryngol
; 272(8): 2071-5, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-25636251
4.
Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux.
Eur J Med Genet
; 62(9): 103554, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-30359775
5.
The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.
Clin Dysmorphol
; 26(2): 121-123, 2017 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-27740950