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UnknownThe Taiwan Precision Medicine Initiative provides a cohort for large-scale studies.
Not available
S-EPMC12675286 | biostudies-literature
UnknownA syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Not available
S-EPMC10806447 | biostudies-literature
UnknownDe novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
Not available
S-EPMC7118694 | biostudies-literature
UnknownFamily genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
Not available
S-EPMC8207526 | 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
UnknownMagnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.
Not available
S-EPMC6893088 | biostudies-literature
UnknownProgressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Not available
S-EPMC8222855 | biostudies-literature
UnknownA concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
Not available
S-EPMC10506157 | biostudies-literature
UnknownDYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
Not available
S-EPMC7767569 | biostudies-literature
UnknownLysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Not available
S-EPMC6562152 | biostudies-literature
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