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UnknownCUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.
Not available
S-EPMC12704061 | biostudies-literature
UnknownAssessment of burden and segregation profiles of CNVs in patients with epilepsy.
Not available
S-EPMC9268881 | biostudies-literature
UnknownA homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Not available
S-EPMC4538215 | biostudies-literature
UnknownGenetics of mirror movements identifies a multifunctional complex required for Netrin-1 guidance and lateralization of motor control.
Not available
S-EPMC10181192 | biostudies-literature
UnknownFHF1 (FGF12) epileptic encephalopathy.
Not available
S-EPMC5087254 | biostudies-literature
UnknownTruncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.
Not available
S-EPMC3204930 | biostudies-literature
UnknownMutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
Not available
S-EPMC3322222 | biostudies-literature
UnknownMutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
Not available
S-EPMC2925262 | biostudies-literature
UnknownJoubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Not available
S-EPMC4667103 | biostudies-literature
UnknownRe-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A.
Not available
S-EPMC6889285 | biostudies-literature
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