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UnknownMultiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors.
Not available
S-EPMC4772618 | biostudies-literature
UnknownExpanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
Not available
S-EPMC5702574 | biostudies-literature
UnknownExciton structure and dynamics in π-conjugated molecular wires.
Not available
S-EPMC12419468 | biostudies-literature
UnknownIntegration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism.
Not available
S-EPMC9634566 | biostudies-literature
UnknownMutations in <i>PRDM15</i> Are a Novel Cause of Galloway-Mowat Syndrome.
Not available
S-EPMC7920168 | biostudies-literature
UnknownMOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features.
Not available
S-EPMC3473350 | biostudies-literature
UnknownMolecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues.
Not available
S-EPMC10284840 | biostudies-literature
UnknownLoss-of-function variants in HIVEP2 are a cause of intellectual disability.
Not available
S-EPMC4929870 | biostudies-literature
UnknownA Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
Not available
S-EPMC11353349 | biostudies-literature
UnknownNFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Not available
S-EPMC6218805 | biostudies-literature
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