Detalhe da pesquisa
1.
Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay.
Reprod Biomed Online
; 44(2): 228-238, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35039224
2.
Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.
Am J Med Genet A
; 161A(9): 2294-9, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23897859
3.
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center.
J Autism Dev Disord
; 52(11): 4828-4842, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34773222
4.
Experiences of a Multidisciplinary Genomic Tumor Board Interpreting Risk for Underlying Germline Variants in Tumor-Only Sequencing Results.
JCO Precis Oncol
; 3: 1-8, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35100691
5.
Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5).
Eur J Med Genet
; 58(5): 305-9, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25858703
6.
Variability in pathogenicity prediction programs: impact on clinical diagnostics.
Mol Genet Genomic Med
; 3(2): 99-110, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25802880
7.
Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.
Eur J Med Genet
; 57(7): 315-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24821304
8.
Placental Pathology in Placental Mesenchymal Dysplasia with 13q12.11 Deletion and a 25-Week Gestation Female Infant.
Am J Case Rep
; 19: 369-373, 2018 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29593209
9.
A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.
Eur J Med Genet
; 56(9): 510-4, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23856564