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the DDD study
140  results:
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1

PPP3CAtruncating variants clustered in the regulatory domai..:

Panneerselvam, Sugi ; Wang, Julia ; Zhu, Wenmiao...
Clinical Genetics.  100 (2021)  2 - p. 227-233 , 2021
Link: https://doi.org/10.1111/..
 
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2

Expanding the genotype–phenotype correlation of de novo het..:

Kanani, Farah ; Titheradge, Hannah ; Cooper, Nicola...
American Journal of Medical Genetics Part A.  182 (2020)  4 - p. 713-720 , 2020
Link: https://doi.org/10.1002/..
 
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3

De novo and inherited TCF20 pathogenic variants are associa..:

The DDD study ; Vetrini, Francesco ; McKee, Shane...
Genome Medicine.  11 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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4

STXBP1-associated neurodevelopmental disorder: a comparativ..:

The DDD Study ; O'Brien, Sinéad ; Ng-Cordell, Elise...
Journal of Neurodevelopmental Disorders.  11 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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5

De novo DDX3X missense variants in males appear viable and ..:

Nicola, Pantelis ; Blackburn, Patrick R. ; Rasmussen, Kristen J....
American Journal of Medical Genetics Part A.  179 (2019)  4 - p. 570-578 , 2019
Link: https://doi.org/10.1002/..
 
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6

Author Correction: Loss of function of NCOR1 and NCOR2 impa..:

DDD study ; Zhou, Wenjun ; He, Yanlin...
Nature Neuroscience.  22 (2019)  9 - p. 1533-1533 , 2019
Link: https://doi.org/10.1038/..
 
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7

Correction to: De novo and inherited TCF20 pathogenic varia..:

The DDD study ; Vetrini, Francesco ; McKee, Shane...
Genome Medicine.  11 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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8

Delineation of dominant and recessive forms of LZTR1‐associ..:

Pagnamenta, Alistair T. ; Kaisaki, Pamela J. ; Bennett, Fenella...
Clinical Genetics.  95 (2019)  6 - p. 693-703 , 2019
Link: https://doi.org/10.1111/..
 
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9

A novel NAA10 p.(R83H) variant with impaired acetyltransfer..:

DDD study ; Ree, Rasmus ; Geithus, Anni Sofie...
BMC Medical Genetics.  20 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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10

Loss of function of NCOR1 and NCOR2 impairs memory through ..:

DDD study ; Zhou, Wenjun ; He, Yanlin...
Nature Neuroscience.  22 (2019)  2 - p. 205-217 , 2019
Link: https://doi.org/10.1038/..
 
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11

A homozygous variant disrupting the PIGH start-codon is ass..:

Pagnamenta, Alistair T. ; Murakami, Yoshiko ; Anzilotti, Consuelo...
Human Mutation.  39 (2018)  6 - p. 822-826 , 2018
Link: https://doi.org/10.1002/..
 
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12

New GJA8 variants and phenotypes highlight its critical rol..:

DDD Study ; Ceroni, Fabiola ; Aguilera-Garcia, Domingo...
Human Genetics.  138 (2018)  8-9 - p. 1027-1042 , 2018
Link: https://doi.org/10.1007/..
 
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13

Further delineation of an entity caused by CREBBP and EP300..:

Menke, Leonie A. ; Gardeitchik, Thatjana ; Hammond, Peter...
American Journal of Medical Genetics Part A.  176 (2018)  4 - p. 862-876 , 2018
Link: https://doi.org/10.1002/..
 
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14

Expanding the phenotype of the X-linked BCOR microphthalmia..:

DDD Study ; Ragge, Nicola ; Isidor, Bertrand...
Human Genetics.  138 (2018)  8-9 - p. 1051-1069 , 2018
Link: https://doi.org/10.1007/..
 
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15

Functional mRNA analysis reveals aberrant splicing caused b..:

Willoughby, Josh ; Duff‐Farrier, Celia ; Desurkar, Archana...
American Journal of Medical Genetics Part A.  176 (2018)  5 - p. 1049-1054 , 2018
Link: https://doi.org/10.1002/..
 
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