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Rachel Straussberg

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Nature Genetics|November 18, 2014

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMikko Muona, Samuel F Berkovic, Leanne M Dibbens, et al.

JCI Insight|September 16, 2016

<i>PIK3CA</i>-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributionGhayda Mirzaa, Andrew E Timms, Valerio Conti, et al.

Nature Communications|October 31, 2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Mark A Corbett, Thessa Kroes, Liana Veneziano, et al.

European Journal of Human Genetics : EJHG|June 21, 2023

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patientsCamille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.

American Journal of Medical Genetics. Part A|January 22, 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.

Pageof 9

Search research articles

Showing results (81-90 of 85) with videos related to

Sort By:

Pageof 9

You have reached the last page of results.This site can display upto 85 results.

Nature Genetics|November 18, 2014

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMikko Muona, Samuel F Berkovic, Leanne M Dibbens, et al.

JCI Insight|September 16, 2016

<i>PIK3CA</i>-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distributionGhayda Mirzaa, Andrew E Timms, Valerio Conti, et al.

Nature Communications|October 31, 2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Mark A Corbett, Thessa Kroes, Liana Veneziano, et al.

European Journal of Human Genetics : EJHG|June 21, 2023

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patientsCamille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.

American Journal of Medical Genetics. Part A|January 22, 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.

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