Detalhe da pesquisa
1.
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.
Muscle Nerve
; 68(6): 833-840, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37789688
2.
Optical Genome Mapping in Prenatal Diagnosis: Democratizing Comprehensive Cytogenomic Testing.
Clin Chem
; 70(6): 783-785, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38712659
3.
Idiopathic intracranial hypertension presenting as postpartum headache.
Neurosciences (Riyadh)
; 21(1): 52-5, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26818168
4.
Is there a difference in the clinical profile and outcome of women using levonorgestrel IUD for abnormal uterine bleeding and those using it for contraception?: A comparative cross-sectional study.
Turk J Obstet Gynecol
; 21(1): 7-14, 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38440962
5.
Clinical Cytogenetics: Current Practices and Beyond.
J Appl Lab Med
; 9(1): 61-75, 2024 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38167757
6.
Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations.
Am J Surg Pathol
; 48(1): 106-111, 2024 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750536
7.
Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups.
Arch Pathol Lab Med
; 2024 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38190268
8.
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.
Mol Genet Genomic Med
; 12(3): e2349, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263869
9.
Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series.
Pediatr Neurol
; 142: 47-50, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36907087
10.
Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements.
Cancers (Basel)
; 15(17)2023 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37686670
11.
Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant.
J Child Neurol
; 37(6): 517-523, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35384780
12.
A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.
J Mol Diagn
; 24(9): 1031-1040, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718094
13.
Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome-Based Resolution of Isoform Complexity.
J Mol Diagn
; 24(12): 1292-1306, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36191838
14.
Protein Z levels in pregnant Omani women: correlation with pregnancy outcome.
J Thromb Thrombolysis
; 32(4): 453-8, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21837382
15.
Somatic variation as an incidental finding in the pediatric next-generation sequencing era.
Cold Spring Harb Mol Case Stud
; 7(6)2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716204
16.
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
Sci Adv
; 7(20)2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33980485
17.
Saline infusion sonohysterography - an effective tool for evaluation of the endometrial cavity in women with abnormal uterine bleeding.
Acta Obstet Gynecol Scand
; 89(1): 140-2, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19832547
18.
Erythrocyte indices, microminerals and ratios, antioxidants and lipids in Centrum Materna diet-supplemented Omani mothers.
Biol Trace Elem Res
; 124(1): 83-91, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18418556
19.
Polyhydramnios. Risk factors and outcome.
Saudi Med J
; 29(2): 256-60, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18246237
20.
Ocular manifestations in a case of Wernicke's encephalopathy due to hyperemesis gravidarum.
Oman J Ophthalmol
; 11(1): 85-87, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29563707