Search details
1.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Brain
; 2024 Mar 25.
Article
in English
| MEDLINE | ID: mdl-38527963
2.
DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; : 101126, 2024 Mar 23.
Article
in English
| MEDLINE | ID: mdl-38529886
3.
Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.
Am J Med Genet A
; 188(4): 1287-1292, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34989141
4.
Fetal phenotypes of Mendelian disorders: A descriptive study from India.
Prenat Diagn
; 42(7): 911-926, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35587316
5.
Turner syndrome in diverse populations.
Am J Med Genet A
; 182(2): 303-313, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31854143
6.
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.
Am J Med Genet A
; 176(5): 1200-1206, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29681087
7.
22q11.2 deletion syndrome in diverse populations.
Am J Med Genet A
; 173(4): 879-888, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28328118
8.
Down syndrome in diverse populations.
Am J Med Genet A
; 173(1): 42-53, 2017 Jan.
Article
in English
| MEDLINE | ID: mdl-27991738
9.
Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?
Eur J Med Genet
; 66(7): 104772, 2023 Jul.
Article
in English
| MEDLINE | ID: mdl-37100236
10.
Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosis.
J Pediatr Endocrinol Metab
; 30(6): 703-706, 2017 May 24.
Article
in English
| MEDLINE | ID: mdl-28599390
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