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Publications by Marcia C. Willing

Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy

Nature Communications

English

Early Physical Activity Provides Sustained Bone Health Benefits Later in Childhood

Medicine and Science in Sports and Exercise

English

Related publications

Loss-Of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

American Journal of Human Genetics

Genetics

2016

English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics

Genetics

2010

English

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

American Journal of Human Genetics

Genetics

2013

English

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics

Genetics

2019

English

Loss-Of-Function Mutations in Sodium Channel Nav1.7 Cause Anosmia

Nature

Multidisciplinary

2011

English

Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases

2019

English

Glucose-6-Phosphate Dehydrogenase Mutations in Mon and Burmese of Southern Myanmar

Journal of Human Genetics

Genetics

2007

English

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

Genetics

2012

English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

Genetics

2011

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Marcia C. Willing

Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy

Early Physical Activity Provides Sustained Bone Health Benefits Later in Childhood

Related publications

Loss-Of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

Loss-Of-Function Mutations in Sodium Channel Nav1.7 Cause Anosmia

Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases

Glucose-6-Phosphate Dehydrogenase Mutations in Mon and Burmese of Southern Myanmar

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts