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1.
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain
; 145(8): 2687-2703, 2022 08 27.
Article
in English
| MEDLINE | ID: mdl-35675510
2.
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Am J Med Genet C Semin Med Genet
; 190(1): 102-108, 2022 03.
Article
in English
| MEDLINE | ID: mdl-35488810
3.
ATP7A delivers copper to the lysyl oxidase family of enzymes and promotes tumorigenesis and metastasis.
Proc Natl Acad Sci U S A
; 116(14): 6836-6841, 2019 04 02.
Article
in English
| MEDLINE | ID: mdl-30890638
4.
A Postpartum Community-Based Weight Management Intervention Designed for Low-Income Women: Feasibility and Initial Efficacy Testing.
J Natl Black Nurses Assoc
; 26(1): 29-39, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-26371358
5.
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
medRxiv
; 2024 Jan 26.
Article
in English
| MEDLINE | ID: mdl-38293138
6.
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Eur J Hum Genet
; 31(8): 905-917, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37188825
7.
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Nat Commun
; 12(1): 2558, 2021 05 07.
Article
in English
| MEDLINE | ID: mdl-33963192
8.
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.
Eur J Med Genet
; 63(1): 103636, 2020 Jan.
Article
in English
| MEDLINE | ID: mdl-30836150
9.
Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III
J. inborn errors metab. screen
; 8: e20200002, 2020. tab, graf
Article
in English
|
LILACS-Express
| ID: biblio-1135004
10.
Sentinel cases of community-acquired methicillin-resistant Staphylococcus aureus onboard a naval ship.
Mil Med
; 168(2): 135-8, 2003 Feb.
Article
in English
| MEDLINE | ID: mdl-12636142
11.
Unusual Clinical Course and Imaging of D-Bifunctional Protein Deficiency, a Rare Leukodystrophy.
Pediatr Neurol
; 90: 70-71, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30396834
12.
Aldicarb: a case series of watermelon-borne carbamate toxicity.
J Agromedicine
; 18(2): 174-7, 2013.
Article
in English
| MEDLINE | ID: mdl-23540307
13.
An approach for trauma nurses to identify error-provoking factors.
Int J Trauma Nurs
; 8(3): 67-9, 2002.
Article
in English
| MEDLINE | ID: mdl-12094155
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