M. Meltzer

发表

Urea cycle disorders

A. Gropman, Francis Rossignol, N. Ah Mew, 2020, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

P. Sieving, I. MacDonald, N. Smaoui, 2010, Human molecular genetics.

Clinical and genetic heterogeneity of crystalline retinopathies: report of two families without bietti crystalline dystrophy.

N. Smaoui, M. Meltzer, Chi-Chao Chan, 2007, Retinal cases & brief reports.

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene

J. Lupski, P. Gouras, A. Hutchinson, 2003, Human mutation.

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

Heidi L Rehm, Wadih M Zein, Zawar Hussain, 2011, Journal of Medical Genetics.

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

G. Cooper, S. Papuc, J. Schreiber, 2019, European Journal of Human Genetics.

Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.

Austin Roorda, Kavitha Ratnam, Jacque L Duncan, 2011, Investigative ophthalmology & visual science.

Molecular testing for hereditary retinal disease as part of clinical care.

P. Sieving, J. Heckenlively, K. Branham, 2007, Archives of ophthalmology.

Molecular Modeling of Retinoschisin and Functional Analysis of Pathogenic Mutations From X-Linked Retinoschisis

P. Sieving, I. MacDonald, N. Smaoui, 2010 .

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

G. Cooper, S. Papuc, J. Schreiber, 2019, European Journal of Human Genetics.