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1.
Identification of Small Regions of Overlap from Copy Number Variable Regions in Patients with Hypospadias.
Int J Mol Sci
; 23(8)2022 Apr 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-35457073
2.
Confirmation of Xp22.11 Duplication as a Germline Susceptibility Alteration in a Wilms Tumor Arising in Horseshoe Kidney.
Fetal Pediatr Pathol
; 41(4): 682-688, 2022 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-33960268
3.
De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome.
Am J Med Genet A
; 167A(12): 2966-74, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26768185
4.
De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders.
Am J Med Genet A
; 164A(4): 958-65, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24459036
5.
Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect.
Am J Med Genet A
; 161A(5): 1167-72, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23532965
6.
Creating Affirmative and Inclusive Practices When Providing Genetic and Genomic Diagnostic and Research Services to Gender-Expansive and Transgender Patients.
J Appl Lab Med
; 6(1): 142-154, 2021 01 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33236080
7.
Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype.
Bone
; 142: 115705, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33141070
8.
Mixed Donor Chimerism Following Simultaneous Pancreas-Kidney Transplant.
Exp Clin Transplant
; 16(3): 307-313, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-28661312
9.
Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience.
J Pediatr Urol
; 14(2): 153.e1-153.e7, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29157626
10.
Small copy-number variations involving genes of the FGF pathway in differences in sex development.
Hum Genome Var
; 4: 17011, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28446957
11.
Integrated small copy number variations and epigenome maps of disorders of sex development.
Hum Genome Var
; 3: 16012, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27340555
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