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UnknownDe Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Not available
S-EPMC6817525 | biostudies-literature
UnknownUnraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors.
Not available
S-EPMC10542653 | biostudies-literature
UnknownMacrocephaly and developmental delay caused by missense variants in RAB5C.
Not available
S-EPMC10586195 | biostudies-literature
UnknownIdentification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Not available
S-EPMC6634302 | biostudies-literature
UnknownDominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Not available
S-EPMC10270265 | biostudies-literature
UnknownA syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Not available
S-EPMC10806447 | biostudies-literature
UnknownBi-allelic variants in INTS11 are associated with a complex neurological disorder.
Not available
S-EPMC10183469 | biostudies-literature
UnknownWhole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
Not available
S-EPMC6565564 | biostudies-literature
UnknownDominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Not available
S-EPMC11206234 | biostudies-literature
UnknownA Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Not available
S-EPMC5294886 | biostudies-literature
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