R. Cohn

发表

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.

Courtney E. French, D. Rowitch, F. Muntoni, 2022, JAMA neurology.

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus

T. Voit, E. Neuen‐Jacob, B. Leube, 2001, Neuromuscular Disorders.

Molecular basis of muscular dystrophies

K. Campbell, K P Campbell, R D Cohn, 2000, Muscle & nerve.

Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological, and genetic study

M. Leppert, J. Tsuruda, K. Flanigan, 2000, Annals of neurology.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2)

B. Grisart, H. Stewart, G. Mancini, 2015, Clinical genetics.

Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN‐related epilepsy

A. Hamosh, J. Hoover-Fong, Natalie Beck, 2016, American journal of medical genetics. Part A.

Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature

E. Lisi, R. Cohn, 2011, Developmental medicine and child neurology.

Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases.

R. Cohn, T. Voit, U. Wewer, 1998, Neurology.

Increased polyamines as protective disease modifiers in congenital muscular dystrophy

E. Hyatt, R. Cohn, D. Kemaladewi, 2018, Human molecular genetics.