Detalhe da pesquisa
1.
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
J Med Genet
; 60(6): 568-575, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36600593
2.
Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management.
Am J Med Genet A
; 170A(1): 233-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26407917
3.
[Introduction of standards and requirement for accredited certification of clinical genetics laboratories in the United States].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(1): 59-64, 2019 Jan 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-30722094
4.
[Standards and requirement for technologists in clinical genetics laboratories in the United States].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(1): 44-53, 2019 Jan 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-30722092
5.
[Standards and regulations for reporting clinical genetic testing results in the United States].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(1): 65-91, 2019 Jan 10.
Artigo
em Chinês
| MEDLINE | ID: mdl-30722095
6.
Feasibility and Clinical Utility of Reporting Hereditary Cancer Predisposition Pathogenic Variants Identified in Research Germline Sequencing: A Prospective Interventional Study.
JCO Precis Oncol
; 8: e2300266, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38295319
7.
Familial 4p Interstitial Deletion Provides New Insights and Candidate Genes Underlying This Rare Condition.
Genes (Basel)
; 14(3)2023 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980907
8.
Preparation of oral solid dosage forms based on homogenized spot melting technique.
Int J Pharm
; 623: 121928, 2022 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718250
9.
Sustained-release capsules coated via thermoforming techniques.
Eur J Pharm Sci
; 168: 106050, 2022 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34756983
10.
Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients.
J Pers Med
; 12(8)2022 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36013246
11.
Oral preparations with tunable dissolution behavior based on selective laser sintering technique.
Int J Pharm
; 593: 120127, 2021 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33253801
12.
Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening.
Int J Neonatal Screen
; 7(3)2021 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34449521
13.
A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools.
Int J Neonatal Screen
; 7(2)2021 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33922835
14.
Acute undifferentiated leukemia: data on incidence and outcomes from a large population-based database.
Leuk Res
; 89: 106301, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31982153
15.
Loss of 17p is a major consequence of whole-arm chromosome translocations in hematologic malignancies.
Cancer Genet Cytogenet
; 173(2): 136-43, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17321329
16.
Corrigendum to "First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children" [Mol. Genet. Metab. Rep. 2 (2016) 81-84].
Mol Genet Metab Rep
; 11: 95, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28653700
17.
A patient with constitutional ring 1 chromosome characterized by SNP array CGH.
Clin Case Rep
; 4(4): 442-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27099748
18.
Frontofacionasal Dysplasia in a Newborn with a De Novo Duplication of 7p15.2-p15.1.
AJP Rep
; 5(2): e111-e1115, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26495166
19.
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.
Mol Genet Metab Rep
; 2: 81-84, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28649532
20.
Homozygous structural rearrangement 16p13: a mechanism of tumorigenesis in sporadic renal angiomyolipoma?
Am J Med Genet A
; 149A(4): 809-11, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19288555