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1.
Genetics evaluation outcomes of patients with pediatric hearing loss: 2008-2022 retrospective study.
Am J Otolaryngol
; 45(2): 104196, 2024.
Article
in English
| MEDLINE | ID: mdl-38134852
2.
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
Am J Med Genet A
; 185(9): 2766-2775, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34160123
3.
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
Am J Med Genet A
; 182(12): 2926-2938, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33043588
4.
Phenotype delineation of ZNF462 related syndrome.
Am J Med Genet A
; 179(10): 2075-2082, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31361404
5.
Primary care physicians' understanding and utilization of pediatric exome sequencing results.
J Genet Couns
; 28(6): 1130-1138, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31469212
6.
Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.
Am J Med Genet A
; 176(9): 1890-1896, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30152016
7.
Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management.
Kidney Int Rep
; 9(5): 1441-1450, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38707809
8.
Black Patients Equally Benefit From Renal Genetics Evaluation but Substantial Barriers in Access Exist.
Kidney Int Rep
; 8(10): 2068-2076, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37850009
9.
Renal Genetics Clinic: 3-Year Experience in the Cleveland Clinic.
Kidney Med
; 5(2): 100585, 2023 Feb.
Article
in English
| MEDLINE | ID: mdl-36712315
10.
Further evidence of GABRA4 and TOP3B as autism susceptibility genes.
Eur J Med Genet
; 63(5): 103876, 2020 May.
Article
in English
| MEDLINE | ID: mdl-32028044
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