Detalhe da pesquisa
1.
Utilization of dental services by rural riverside populations covered by a Fluvial Family Health Team in Brazil.
Rural Remote Health
; 24(1): 8258, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38225779
2.
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
Am J Hum Genet
; 107(6): 1044-1061, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159882
3.
The familial trend of the local inflammatory response in periodontal disease.
Oral Dis
; 28(1): 202-209, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252790
4.
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.
Neurogenetics
; 21(4): 301-304, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32488727
5.
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
Neurogenetics
; 20(3): 117-127, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31011849
6.
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.
Neurogenetics
; 20(2): 91-98, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982090
7.
A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing.
BMC Med Genet
; 20(1): 105, 2019 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31185933
8.
Cortisol stress reactivity in women, diurnal variations, and hormonal contraceptives: studies from the Family Health Patterns Project.
Stress
; 22(4): 421-427, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30896268
9.
Hot-spot KIF5A mutations cause familial ALS.
Brain
; 141(3): 688-697, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29342275
10.
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Brain
; 141(6): 1622-1636, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29718187
11.
Acute Physiologic Stress and Subsequent Anxiety Among Family Members of ICU Patients.
Crit Care Med
; 46(2): 229-235, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29112079
12.
PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
Clin Genet
; 93(1): 84-91, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28390064
13.
An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.
Muscle Nerve
; 57(5): 859-862, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236290
14.
Family Health Strategy associated with increased dental visitation among preschool children in Brazil.
Int J Paediatr Dent
; 28(6): 624-632, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30175414
15.
Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.
Muscle Nerve
; 55(6): 922-927, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27783406
16.
Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.
J Peripher Nerv Syst
; 22(1): 13-18, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862672
17.
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
Neurodegener Dis
; 17(4-5): 208-212, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28558379
18.
Genetic analysis of non-syndromic familial multiple supernumerary premolars.
Acta Odontol Scand
; 75(5): 350-354, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28393601
19.
Family with Ehlers-Danlos syndrome (combined classic and vascular type) with rare presentation of progressive myopathy and unusual association of severe facial and trigeminal motor weakness.
Neurol India
; 65(3): 561-565, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28488622
20.
Dentists' perception of primary health care services in family health and mother and child health clinics in Alexandria, Egypt.
East Mediterr Health J
; 23(2): 73-79, 2017 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-28383095