Detalles de la búsqueda
1.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(7): 1330-1341, 2021 07 01.
Artículo
Inglés
| MEDLINE | ID: mdl-34102099
2.
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Genet Med
; 26(2): 101027, 2024 Feb.
Artículo
Inglés
| MEDLINE | ID: mdl-37955240
3.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
J Inherit Metab Dis
; 46(2): 300-312, 2023 03.
Artículo
Inglés
| MEDLINE | ID: mdl-36651831
4.
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Genet Med
; 23(9): 1624-1635, 2021 09.
Artículo
Inglés
| MEDLINE | ID: mdl-34040189
5.
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Am J Med Genet A
; 185(1): 213-218, 2021 01.
Artículo
Inglés
| MEDLINE | ID: mdl-33044030
6.
Laboratory monitoring of patients with hereditary tyrosinemia type I.
Mol Genet Metab
; 130(4): 247-254, 2020 08.
Artículo
Inglés
| MEDLINE | ID: mdl-32546364
7.
Detection of cryptic CCND1 rearrangements in mantle cell lymphoma by next generation sequencing.
Ann Diagn Pathol
; 46: 151533, 2020 Jun.
Artículo
Inglés
| MEDLINE | ID: mdl-32408254
8.
Older Age, Male Sex, and Early Start Time Lengthen the Recovery Room Stay Following Total Joint Arthroplasty in an Ambulatory Surgical Center.
HSS J
; 20(1): 63-68, 2024 Feb.
Artículo
Inglés
| MEDLINE | ID: mdl-38356749
9.
A complement C4-derived glycopeptide is a biomarker for PMM2-CDG.
JCI Insight
; 9(7)2024 Apr 08.
Artículo
Inglés
| MEDLINE | ID: mdl-38587076
10.
Regulation of the metastatic cell phenotype by sialylated glycans.
Cancer Metastasis Rev
; 31(3-4): 501-18, 2012 Dec.
Artículo
Inglés
| MEDLINE | ID: mdl-22699311
11.
The Complication of a Retained Broken Distal Interlocking Screw Within a Cephalomedullary Nail During Conversion Hip Arthroplasty: A Case Report.
Cureus
; 15(4): e37075, 2023 Apr.
Artículo
Inglés
| MEDLINE | ID: mdl-37153273
12.
PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.
JIMD Rep
; 64(6): 424-433, 2023 Nov.
Artículo
Inglés
| MEDLINE | ID: mdl-37927489
13.
The Effect of Preoperative Exposure to Benzodiazepines on Opioid Consumption After One and Two-level Anterior Cervical Discectomy and Fusion.
Clin Spine Surg
; 36(10): E410-E415, 2023 12 01.
Artículo
Inglés
| MEDLINE | ID: mdl-37363819
14.
The effect of long-term opioid use on back-specific disability and health-related quality of life in patients with chronic low back pain.
J Osteopath Med
; 122(9): 469-479, 2022 09 01.
Artículo
Inglés
| MEDLINE | ID: mdl-35950241
15.
Utilizing augmented artificial intelligence for aminoacidopathies using collaborative laboratory integrated reporting- A cross-sectional study.
Ann Med Surg (Lond)
; 82: 104651, 2022 Oct.
Artículo
Inglés
| MEDLINE | ID: mdl-36268324
16.
Medial Clavicle Fracture Fixation Including the Sternum: A Case Report.
JBJS Case Connect
; 11(2)2021 06 15.
Artículo
Inglés
| MEDLINE | ID: mdl-34129535
17.
Osteopathic Manipulation in the Management of Chronic Pain: Current Perspectives.
J Pain Res
; 13: 1839-1847, 2020.
Artículo
Inglés
| MEDLINE | ID: mdl-32765058
18.
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
Ann Clin Transl Neurol
; 7(6): 1013-1028, 2020 06.
Artículo
Inglés
| MEDLINE | ID: mdl-32519519
19.
Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance.
Neuromuscul Disord
; 29(2): 146-149, 2019 02.
Artículo
Inglés
| MEDLINE | ID: mdl-30658899
20.
The Tumor-Associated Glycosyltransferase ST6Gal-I Regulates Stem Cell Transcription Factors and Confers a Cancer Stem Cell Phenotype.
Cancer Res
; 76(13): 3978-88, 2016 07 01.
Artículo
Inglés
| MEDLINE | ID: mdl-27216178