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UnknownMcph1, mutated in primary microcephaly, is also crucial for erythropoiesis.
Not available
S-EPMC11094029 | biostudies-literature
UnknownMcph1, mutated in primary microcephaly, is also crucial for erythropoiesis
Not available
S-SCDT-10_1038-S44319-024-00123-8 | biostudies-other
UnknownSingle-sperm analysis for recurrence risk assessment of spinal muscular atrophy.
Not available
S-EPMC2987255 | biostudies-literature
UnknownBreakpoint-specific multiplex polymerase chain reaction allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphoblastic leukemia.
Not available
S-EPMC3659991 | biostudies-literature
UnknownDown syndrome-like acute megakaryoblastic leukemia in a patient with Cornelia de Lange syndrome.
Not available
S-EPMC6058797 | biostudies-literature
UnknownA biallelic variant in <i>GORASP1</i> causes a novel Golgipathy with glycosylation and mitotic defects.
Not available
S-EPMC11814487 | biostudies-literature
UnknownMutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
Not available
S-EPMC4974106 | biostudies-literature
UnknownNew ZNHIT3 Variants Disrupting snoRNP Assembly Cause Prenatal PEHO Syndrome with Isolated Hydrops.
Not available
S-EPMC11383450 | biostudies-literature
UnknownLarge deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.
Not available
S-EPMC3865420 | biostudies-literature
UnknownMutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
Not available
S-EPMC4385181 | biostudies-literature
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