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UnknownNext generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Not available
S-EPMC3039499 | biostudies-literature
UnknownGenetic association analysis of grain yield-related traits in Aegilops tauschii under drought and non-stress conditions.
Not available
S-EPMC12559188 | biostudies-literature
UnknownIntellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery.
Not available
S-EPMC9014605 | biostudies-literature
UnknownMutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
Not available
S-EPMC3135808 | biostudies-literature
UnknownMicrowave-assisted synthesis of trimethylolpropane triester (bio-lubricant) from camelina oil.
Not available
S-EPMC9279384 | biostudies-literature
UnknownOld gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.
Not available
S-EPMC6060001 | biostudies-literature
UnknownIdentification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review.
Not available
S-EPMC10178790 | biostudies-literature
UnknownA Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly.
Not available
S-EPMC3943041 | biostudies-literature
UnknownA Novel Candidate Gene <i>MACF1</i> is Associated with Autosomal Dominant Non-syndromic Hearing Loss in an Iranian Family.
Not available
S-EPMC11862395 | biostudies-literature
UnknownPhenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients.
Not available
S-EPMC9000939 | biostudies-literature
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