Detalhe da pesquisa
1.
GNRH1 Variants in Congenital Hypogonadotropic Hypogonadism: Single-Center Experience and Systematic Literature Review.
Neuroendocrinology
; 112(8): 723-732, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-34923491
2.
Regional genotypic variations in normosmic congenital hypogonadotropic hypogonadism: our experience and systematic review.
Pituitary
; 25(3): 444-453, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-35133534
3.
Expanding the phenome and variome of skeletal dysplasia.
Genet Med
; 20(12): 1609-1616, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29620724
4.
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.
Genet Med
; 18(5): 483-93, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26204423
5.
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.
Am J Med Genet A
; 170A(2): 410-417, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26601801
6.
Biotin thiamine responsive basal ganglia disease-A potentially treatable inborn error of metabolism.
Neurol India
; 64(6): 1328-1331, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27841215
7.
Isoleucine Deficiency in a Neonate Treated for Maple Syrup Urine Disease Masquerading as Acrodermatitis Enteropathica.
Indian Pediatr
; 53(8): 738-40, 2016 Aug 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27567652
8.
Recurrent and novel GLB1 mutations in India.
Gene
; 567(2): 173-81, 2015 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-25936995
9.
MURCS association with situs inversus totalis: Expanding the spectrum or a novel disorder.
J Pediatr Genet
; 3(3): 167-73, 2014 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-27625874
10.
Patient with mutation in the matrix metalloproteinase 2 (MMP2) gene - a case report and review of the literature.
J Clin Res Pediatr Endocrinol
; 6(1): 40-6, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24637309
11.
A descriptive analysis of 14 cases of progressive-psuedorheumatoid-arthropathy of childhood from south India: review of literature in comparison with juvenile idiopathic arthritis.
Semin Arthritis Rheum
; 42(6): 582-9, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23270760
12.
A case report of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome associated with Klinefelter syndrome and review of the literature.
Foot Ankle Spec
; 5(1): 37-40, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-21965580
13.
De Barsy syndrome type B presenting with cardiac and genitourinary abnormalities.
Clin Dysmorphol
; 25(4): 190-1, 2016 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-27379772