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1.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-34186028
2.
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
J Med Genet
; 59(11): 1069-1074, 2022 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-35393337
3.
A novel homozygous variant in TRAPPC2L results in a neurodevelopmental disorder and disrupts TRAPP complex function.
J Med Genet
; 58(9): 592-601, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32843486
4.
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
Hum Genet
; 138(10): 1105-1115, 2019 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31230195
5.
Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.
Cold Spring Harb Mol Case Stud
; 5(3)2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-31010896
6.
One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B.
JCI Insight
; 4(2)2019 Jan 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-30674731
7.
A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching.
Ophthalmic Genet
; 39(1): 41-45, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-28742462
8.
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Front Med (Lausanne)
; 4: 62, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28603714
9.
Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.
Front Med (Lausanne)
; 3: 39, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27785453
10.
An anthrax toxin variant with an improved activity in tumor targeting.
Sci Rep
; 5: 16267, 2015 Nov 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-26584669
11.
The Undiagnosed Diseases Program Integrated Collaboration System (UDPICS): One Program's Experience Developing Custom Software to Support Research for Complex-Disease Families.
Children (Basel)
; 2(3): 342-57, 2015 Jul 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-27417368
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