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UnknownPractice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.
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S-EPMC2877670 | biostudies-literature
UnknownUpdate of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.
Not available
S-EPMC6777528 | biostudies-literature
UnknownBehavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes.
Not available
S-EPMC6778364 | biostudies-literature
UnknownPrevalence of fetal alcohol spectrum disorder in Greater Manchester, UK: An active case ascertainment study.
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S-EPMC9292152 | biostudies-literature
UnknownDiagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.
Not available
S-EPMC5023796 | biostudies-literature
UnknownArray comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report.
Not available
S-EPMC2596801 | biostudies-literature
UnknownPrognosis Communication in Late-Life Disability: A Mixed Methods Study.
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S-EPMC5681411 | biostudies-literature
UnknownLarge, rare chromosomal deletions associated with severe early-onset obesity.
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S-EPMC3108883 | biostudies-literature
UnknownA novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.
Not available
S-EPMC3975066 | biostudies-literature
UnknownLigase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.
Not available
S-EPMC7445424 | biostudies-literature
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