I Madrigal

Author PubWeight™ 4.93^‹?›

Rank	Title	Journal	Year	PubWeight™‹?›
1	Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.	Am J Med Genet A	2007	0.90
2	Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome.	J Inherit Metab Dis	2007	0.87
3	Motor and mental dysfunction in mother-daughter transmitted FXTAS.	Neurology	2010	0.86
4	MicroRNA expression profiling in blood from fragile X-associated tremor/ataxia syndrome patients.	Genes Brain Behav	2013	0.79
5	Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses.	Reprod Biomed Online	2010	0.78
6	Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.	Br J Dermatol	2011	0.75
7	Pseudodicentric 22;Y translocation transmitted through four generations of a large family without phenotypic repercussion.	Cytogenet Genome Res	2007	0.75
8	Characterization of a complex cryptic mosaicism for an sSMC derived from the X chromosome present in a boy with congenital malformations.	Am J Med Genet A	2010	0.75