Kathryn Miller

发表

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, E. Goldberg, 2018, Genetics in Medicine.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype–phenotype correlation

B. L. de Groot, R. Ganetzky, J. Vockley, 2019, Human mutation.

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy

S. Mane, I. So, Hee-Jung Choi, 2017, Annals of neurology.

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

J. Graham, K. Bowling, A. Afenjar, 2019, Genetics in Medicine.

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

D. Schneidman-Duhovny, S. Dunwoodie, N. Pachter, 2017, Human molecular genetics.

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

Mahshid S. Azamian, J. Rosenfeld, J. Lupski, 2016, American journal of human genetics.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.