Chana Vinkler

Author PubWeight™ 11.87^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?	Eur J Paediatr Neurol	2007	1.52
2	A benign congenital myopathy in an inbred Samaritan family.	Eur J Paediatr Neurol	2006	1.41
3	Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.	Am J Med Genet A	2009	0.95
4	A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.	Eur J Hum Genet	2010	0.93
5	Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother.	Eur J Paediatr Neurol	2010	0.86
6	Delineation of the interstitial 6q25 microdeletion syndrome: refinement of the critical causative region.	Am J Med Genet A	2012	0.84
7	A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms.	Am J Med Genet A	2007	0.80
8	Congenital cytomegalovirus infection presenting as an apparent neurodegenerative disorder.	Clin Pediatr (Phila)	2002	0.76
9	Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.	Am J Med Genet A	2014	0.76
10	Congenital patent ductus venosus: an association with the hyper IgE syndrome.	J Pediatr	2007	0.76
11	Familial hyperekplexia and refractory status epilepticus: a new autosomal recessive syndrome.	J Child Neurol	2004	0.76
12	[Ketogenic diet as antiepileptic therapy: a description of the clinical experience and the multidisciplinary approach at the metabolic-neurogenetic clinic at the Wolfson Medical Center].	Harefuah	2004	0.76
13	Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia.	Am J Med Genet A	2011	0.76
14	Hemifacial microsomia with spinal and rib anomalies: prenatal diagnosis and postmortem confirmation using 3-D computed tomography reconstruction.	Fetal Diagn Ther	2011	0.75
15	Genetic counseling and testing for FSHD (facioscapulohumeral muscular dystrophy) in the Israeli population.	J Genet Couns	2011	0.75
16	Autistic regression in a child with Silver-Russell syndrome and maternal UPD 7.	Eur J Paediatr Neurol	2011	0.75