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1.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Am J Hum Genet
; 107(5): 977-988, 2020 11 05.
Article
in English
| MEDLINE | ID: mdl-33058759
2.
Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.
Hum Mol Genet
; 27(12): 2039-2051, 2018 06 15.
Article
in English
| MEDLINE | ID: mdl-29590342
3.
Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.
Hum Mol Genet
; 27(21): 3825, 2018 11 01.
Article
in English
| MEDLINE | ID: mdl-30107584
4.
Partial duplication of 13q31.3-q34 and deletion of 13q34 associated with diaphragmatic hernia as a sole malformation in a fetus.
Am J Med Genet A
; 158A(9): 2302-8, 2012 Sep.
Article
in English
| MEDLINE | ID: mdl-22847911
5.
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.
Nat Rev Drug Discov
; 17(4): 280-299, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29217836
6.
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.
Biol Psychiatry
; 84(4): 253-264, 2018 08 15.
Article
in English
| MEDLINE | ID: mdl-29778275
7.
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
JAMA Psychiatry
; 73(1): 20-30, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26629640
8.
Erratum: Emerging topics in FXTAS.
J Neurodev Disord
; 7(1): 13, 2015.
Article
in English
| MEDLINE | ID: mdl-25852777
9.
Emerging topics in FXTAS.
J Neurodev Disord
; 6(1): 31, 2014.
Article
in English
| MEDLINE | ID: mdl-25642984
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