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1.
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study.
Genet Med
; 26(2): 101012, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37924259
2.
Persistent chylothorax associated with lymphatic malformation type 6 due to biallelic pathogenic variants in PIEZO1.
Am J Med Genet A
; 191(8): 2188-2192, 2023 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-37159433
3.
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.
Am J Med Genet A
; 191(2): 338-347, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36331261
4.
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.
Hum Mutat
; 43(12): 1732-1744, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35842788
5.
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.
Genet Med
; 23(10): 1889-1900, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34113007
6.
A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters.
Gynecol Endocrinol
; 36(1): 24-29, 2020 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-31464148
7.
p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy.
Clin Genet
; 96(5): 449-455, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31392718
8.
The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.
Am J Med Genet C Semin Med Genet
; 178(4): 458-463, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30580481
9.
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Mov Disord Clin Pract
; 7(8): 940-949, 2020 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33163565
10.
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
Eur J Hum Genet
; 28(1): 76-87, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31395947
11.
MRI-based methodology to monitor the impact of positional changes on the airway caliber in obstructive sleep apnea patients.
Magn Reson Imaging
; 61: 233-238, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31150812
12.
Stabilizing proteins from sequence statistics: the interplay of conservation and correlation in triosephosphate isomerase stability.
J Mol Biol
; 420(4-5): 384-99, 2012 Jul 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-22555051
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