Detalles de la búsqueda
1.
Canadian Multicentric Pan-TRK (CANTRK) Immunohistochemistry Harmonization Study.
Mod Pathol
; 37(1): 100384, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-37972928
2.
Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma.
Genet Med
; 26(7): 101125, 2024 Mar 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-38522068
3.
Transbronchial Lung Cryobiopsies, Transbronchial Forceps Lung Biopsies, and Surgical Lung Biopsies in Mechanically Ventilated Patients with Acute Hypoxemic Respiratory Failure: A Retrospective Cohort Study.
J Intensive Care Med
; : 8850666241247145, 2024 Apr 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38646814
4.
Transbronchial Lung Cryobiopsy and Surgical Lung Biopsy: A Prospective Multi-Centre Agreement Clinical Trial (CAN-ICE).
Am J Respir Crit Care Med
; 207(12): 1612-1619, 2023 06 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36796092
5.
Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms.
J Med Genet
; 59(12): 1171-1178, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35803701
6.
Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.
Int J Mol Sci
; 24(10)2023 May 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-37240244
7.
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 287-298, 2019 02 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30661771
8.
The postnatal leptin surge in mice is variable in both time and intensity and reflects nutritional status.
Int J Obes (Lond)
; 46(1): 39-49, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34475504
9.
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
Am J Med Genet A
; 188(1): 336-342, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34585832
10.
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
J Inherit Metab Dis
; 45(5): 996-1012, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35621276
11.
Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
Am J Hum Genet
; 103(1): 100-114, 2018 07 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29979980
12.
Weight-loss response to naltrexone/bupropion is modulated by the Taq1A genetic variant near DRD2 (rs1800497): A pilot study.
Diabetes Obes Metab
; 23(3): 850-853, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33236485
13.
Tepotinib Efficacy in a Patient with Non-Small Cell Lung Cancer with Brain Metastasis Harboring an HLA-DRB1-MET Gene Fusion.
Oncologist
; 25(11): 916-920, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32716573
14.
Loss of the imprinted, non-coding Snord116 gene cluster in the interval deleted in the Prader Willi syndrome results in murine neuronal and endocrine pancreatic developmental phenotypes.
Hum Mol Genet
; 26(23): 4606-4616, 2017 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28973544
15.
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Am J Hum Genet
; 98(3): 562-570, 2016 Mar 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-26942288
16.
Open staged repair of splenic and extensive superior mesenteric artery aneurysms.
J Vasc Surg
; 69(4): 1252-1256, 2019 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-30292603
17.
The role of Rpgrip1l, a component of the primary cilium, in adipocyte development and function.
FASEB J
; 32(7): 3946-3956, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29466054
18.
FTO mediates cell-autonomous effects on adipogenesis and adipocyte lipid content by regulating gene expression via 6mA DNA modifications.
J Lipid Res
; 59(8): 1446-1460, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29934339
19.
The subgingival microbiome, systemic inflammation and insulin resistance: The Oral Infections, Glucose Intolerance and Insulin Resistance Study.
J Clin Periodontol
; 44(3): 255-265, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-27978598
20.
A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
Am J Hum Genet
; 92(6): 996-1000, 2013 Jun 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-23731537