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1.
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Am J Hum Genet
; 108(4): 749-756, 2021 04 01.
Article
in English
| MEDLINE | ID: mdl-33743206
2.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(4): 740-750, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33239752
3.
SYT1-associated neurodevelopmental disorder: a case series.
Brain
; 141(9): 2576-2591, 2018 09 01.
Article
in English
| MEDLINE | ID: mdl-30107533
4.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
Am J Hum Genet
; 97(6): 922-32, 2015 Dec 03.
Article
in English
| MEDLINE | ID: mdl-26637982
5.
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Genet Med
; 23(12): 2467, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34667295
6.
Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
Am J Med Genet A
; 164A(7): 1795-801, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24700761
7.
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
Am J Med Genet A
; 161A(3): 487-500, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23345203
8.
Investigation of NRXN1 deletions: clinical and molecular characterization.
Am J Med Genet A
; 161A(4): 717-31, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23495017
9.
Effect of Gender and Special Considerations for Women in Mastocytosis and Anaphylaxis.
Immunol Allergy Clin North Am
; 43(4): 763-776, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37758412
10.
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Sci Adv
; 9(17): eade0631, 2023 04 28.
Article
in English
| MEDLINE | ID: mdl-37126546
11.
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.
EMBO Mol Med
; 13(12): e13787, 2021 12 07.
Article
in English
| MEDLINE | ID: mdl-34779586
12.
De novo substitutions of TRPM3 cause intellectual disability and epilepsy.
Eur J Hum Genet
; 27(10): 1611-1618, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31278393
13.
Biochemical and clinical aspects of glycogen storage diseases.
J Endocrinol
; 238(3): R131-R141, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29875163
14.
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Nat Genet
; 42(3): 203-9, 2010 Mar.
Article
in English
| MEDLINE | ID: mdl-20154674
15.
Telegenetics in Maine: Successful clinical and educational service delivery model developed from a 3-year pilot project.
Genet Med
; 7(1): 21-7, 2005 Jan.
Article
in English
| MEDLINE | ID: mdl-15654224
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