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Publications by R. Lifton

1201 Whole Exon Deletion in the Claudin 16 Gene, a Novel Mutation in Familial Hypomagnesemia/Hypercalciuria/Nephrocalcinosis (FHHNC) and Sensorineural Deafness (SND)

Archives of Disease in Childhood

English

In Vivo Phosphorylation of the Epithelial Sodium Channel

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

1998

English

Related publications

X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats

American Journal of Human Genetics

Genetics

1999

English

Detection of a Novel Exon 4 Low-Density Lipoprotein Receptor Gene Deletion in a Swiss Family With Severe Familial Hypercholesterolemia

Clinical Chemistry and Laboratory Medicine

Biochemistry

Medicine

Clinical Biochemistry

2003

English

Autosomal Dominant Familial Hypoparathyroidism and Sensorineural Deafness Without Renal Dysplasia

European Journal of Endocrinology

English

Syndromic Congenital Sensorineural Deafness, Microtia and Microdontia Resulting From a Novel Homoallelic Mutation in Fibroblast Growth Factor 3 (FGF3)

European Journal of Human Genetics

Genetics

2008

English

Deletion of Claudin-10 (Cldn10) in the Thick Ascending Limb Impairs Paracellular Sodium Permeability and Leads to Hypermagnesemia and Nephrocalcinosis

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

2012

English

A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family

Brazilian Journal of Medical and Biological Research

English

A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma

Archives of Dermatology

2007

English

Prevalence of the Mitochondrial DNA A1555G Mutation in Sensorineural Deafness Patients in Island Southeast Asia

Journal of Human Genetics

Genetics

2003

English

Visual Impairment in Severe and Profound Sensorineural Deafness.

Archives of Disease in Childhood

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by R. Lifton

1201 Whole Exon Deletion in the Claudin 16 Gene, a Novel Mutation in Familial Hypomagnesemia/Hypercalciuria/Nephrocalcinosis (FHHNC) and Sensorineural Deafness (SND)

In Vivo Phosphorylation of the Epithelial Sodium Channel

Related publications

X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats

Detection of a Novel Exon 4 Low-Density Lipoprotein Receptor Gene Deletion in a Swiss Family With Severe Familial Hypercholesterolemia

Autosomal Dominant Familial Hypoparathyroidism and Sensorineural Deafness Without Renal Dysplasia

Syndromic Congenital Sensorineural Deafness, Microtia and Microdontia Resulting From a Novel Homoallelic Mutation in Fibroblast Growth Factor 3 (FGF3)

Deletion of Claudin-10 (Cldn10) in the Thick Ascending Limb Impairs Paracellular Sodium Permeability and Leads to Hypermagnesemia and Nephrocalcinosis

A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family

A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma

Prevalence of the Mitochondrial DNA A1555G Mutation in Sensorineural Deafness Patients in Island Southeast Asia

Visual Impairment in Severe and Profound Sensorineural Deafness.