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494 results for your search :
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Further delineation of SCAF4-associated NDDs
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Fetal form of Tonne-Kalscheuer syndrome (TOKAS) associated with variants in RLIM
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Refinement of the clinical and radiological phenotype of patients carrying bi allelic pathogenic MED23 variants
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Manchester Dysmorphology Conference 2023
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LRRC8A de novo variant
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Phelan-McDermid Guideline
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SETD5 prenatal phenotype: a review
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Further expansion of the MAP4K4-related phenotype
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Expanding the phenotype of PBX1 syndrome
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Urinary glucotetrasaccharides elevation in IHPRF1 patients due to homozygous or compound heterozygous deleterious variants in NALCN gene