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1.
Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.
Hum Mutat
; 41(2): 412-419, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31660686
2.
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
3.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30275510
4.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30190611
5.
Health Supervision for Children and Adolescents With Marfan Syndrome.
Pediatrics
; 151(4)2023 04 01.
Article
in English
| MEDLINE | ID: mdl-36938616
6.
Two Cases of Preaxial Polydactyly of the Foot: Important Implications for Plastic Surgeons.
Plast Reconstr Surg Glob Open
; 9(2): e3358, 2021 Feb.
Article
in English
| MEDLINE | ID: mdl-33680639
7.
Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results.
J Assoc Genet Technol
; 44(4): 137-140, 2018.
Article
in English
| MEDLINE | ID: mdl-30521494
8.
The Undergraduate Training in Genomics (UTRIG) Initiative: early & active training for physicians in the genomic medicine era.
Per Med
; 15(3): 199-208, 2018 05 01.
Article
in English
| MEDLINE | ID: mdl-29843583
9.
Familial unilateral ectopia lentis.
J AAPOS
; 11(6): 620-1, 2007 Dec.
Article
in English
| MEDLINE | ID: mdl-17720572
10.
Health Supervision for Children and Adolescents With Down Syndrome.
Pediatrics
; 149(5)2022 05 01.
Article
in English
| MEDLINE | ID: mdl-35490285
11.
Disclosure of Genome Sequencing Results: Are Pediatricians Ready?
Pediatrics
; 136(4): e1005-6, 2015 Oct.
Article
in English
| MEDLINE | ID: mdl-26371190
12.
Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities.
Am J Med Genet A
; 137(2): 117-24, 2005 Aug 30.
Article
in English
| MEDLINE | ID: mdl-16086394
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