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1.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 361-372, 2022 02 03.
Article
in English
| MEDLINE | ID: mdl-35051358
2.
Trastuzumab deruxtecan in patients with solid tumours harbouring specific activating HER2 mutations (DESTINY-PanTumor01): an international, phase 2 study.
Lancet Oncol
; 25(6): 707-719, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38710187
3.
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Am J Hum Genet
; 107(3): 564-574, 2020 09 03.
Article
in English
| MEDLINE | ID: mdl-32822602
4.
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Am J Med Genet A
; 191(2): 490-497, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36513625
5.
Integrating Disaster Management Into Curricula: A Successful Collaboration With Community Partners.
Nurs Educ Perspect
; 2023 Jul 11.
Article
in English
| MEDLINE | ID: mdl-37428638
6.
Chromosomally normal miscarriage is associated with vaginal dysbiosis and local inflammation.
BMC Med
; 20(1): 38, 2022 01 28.
Article
in English
| MEDLINE | ID: mdl-35090453
7.
Identifying volatile and non-volatile organic compounds to discriminate cultivar, growth location, and stage of ripening in olive fruits and oils.
J Sci Food Agric
; 102(11): 4500-4513, 2022 Aug 30.
Article
in English
| MEDLINE | ID: mdl-35122271
8.
Symptomatic Diaphragmatic Hernia after Thoracofemoral Bypass.
Ann Vasc Surg
; 76: 600.e7-600.e13, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-33831524
9.
Enhanced Microbial Bile Acid Deconjugation and Impaired Ileal Uptake in Pregnancy Repress Intestinal Regulation of Bile Acid Synthesis.
Hepatology
; 70(1): 276-293, 2019 07.
Article
in English
| MEDLINE | ID: mdl-30983011
10.
Heme-Induced Oxidation of Cysteine Groups of Myofilament Proteins Leads to Contractile Dysfunction of Permeabilized Human Skeletal Muscle Fibres.
Int J Mol Sci
; 21(21)2020 Oct 31.
Article
in English
| MEDLINE | ID: mdl-33142923
11.
Twenty-four-hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith-Magenis syndrome, a neurodevelopmental disorder.
Am J Med Genet A
; 179(2): 224-236, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30690916
12.
Surgical Timing for Congenital Ptosis Should Not Be Determined Solely by the Presence of Anisometropia.
Ophthalmic Plast Reconstr Surg
; 35(4): 374-377, 2019.
Article
in English
| MEDLINE | ID: mdl-30789542
13.
Giant Dermatofibrosarcoma Protuberans With Bilateral Orbital Involvement.
Ophthalmic Plast Reconstr Surg
; 35(2): e36-e39, 2019.
Article
in English
| MEDLINE | ID: mdl-30730435
14.
Developing community relationships to enhance well-being in a worksite wellness program.
Public Health Nurs
; 36(3): 363-369, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30883905
15.
Identification of oxidative modifications of hemopexin and their predicted physiological relevance.
J Biol Chem
; 292(33): 13658-13671, 2017 08 18.
Article
in English
| MEDLINE | ID: mdl-28596380
16.
Vaginal dysbiosis increases risk of preterm fetal membrane rupture, neonatal sepsis and is exacerbated by erythromycin.
BMC Med
; 16(1): 9, 2018 01 24.
Article
in English
| MEDLINE | ID: mdl-29361936
17.
Estimated annual health care expenditures in individuals with peripheral arterial disease.
J Vasc Surg
; 67(2): 558-567, 2018 02.
Article
in English
| MEDLINE | ID: mdl-28847660
18.
Rifaximin in non-alcoholic steatohepatitis: An open-label pilot study.
Hepatol Res
; 48(1): 69-77, 2018 Jan.
Article
in English
| MEDLINE | ID: mdl-28425154
19.
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Hum Mutat
; 38(12): 1774-1785, 2017 12.
Article
in English
| MEDLINE | ID: mdl-28940898
20.
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Hum Genet
; 136(4): 409-420, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28213671