|
1
|
WDR62 is associated with the spindle pole and is mutated in human microcephaly.
|
Nat Genet
|
2010
|
2.40
|
|
2
|
Many roads lead to primary autosomal recessive microcephaly.
|
Prog Neurobiol
|
2009
|
1.78
|
|
3
|
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.
|
Cell Rep
|
2012
|
1.43
|
|
4
|
Craniosynostosis: A rare complication of pycnodysostosis.
|
Eur J Med Genet
|
2010
|
1.10
|
|
5
|
Neuroprotective effects of dexmedetomidine against glutamate agonist-induced neuronal cell death are related to increased astrocyte brain-derived neurotrophic factor expression.
|
Anesthesiology
|
2013
|
1.09
|
|
6
|
Embryonic depletion of serotonin affects cortical development.
|
Eur J Neurosci
|
2007
|
1.08
|
|
7
|
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.
|
Eur J Med Genet
|
2010
|
1.04
|
|
8
|
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
|
Hum Mutat
|
2012
|
0.93
|
|
9
|
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
|
Eur J Hum Genet
|
2012
|
0.88
|
|
10
|
Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.
|
Am J Med Genet A
|
2010
|
0.86
|
|
11
|
A familial syndromal form of omphalocele.
|
Eur J Med Genet
|
2011
|
0.83
|
|
12
|
Aphallia, lung agenesis and multiple defects of blastogenesis.
|
Fetal Pediatr Pathol
|
2011
|
0.82
|
|
13
|
Autosomal recessive primary microcephalies (MCPH).
|
Eur J Paediatr Neurol
|
2008
|
0.79
|
|
14
|
How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?
|
Mol Genet Metab
|
2012
|
0.78
|
|
15
|
Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome.
|
BMC Med Genet
|
2013
|
0.77
|
|
16
|
Absence of microcephalin gene mutations in a large cohort of non-consanguineous patients with autosomal recessive primary microcephaly.
|
Am J Med Genet A
|
2010
|
0.75
|
|
17
|
ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53.
|
Cell Death Dis
|
2017
|
0.75
|
|
18
|
A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.
|
Eur J Med Genet
|
2013
|
0.75
|
|
19
|
A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.
|
Epilepsia
|
2014
|
0.75
|
|
20
|
A new lysosomal storage disorder resembling Morquio syndrome in sibs.
|
Eur J Med Genet
|
2012
|
0.75
|