18 results on '"Matalon, Dena R."'
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2. Contributors
3. Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions
4. Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
5. Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome
6. Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder
7. DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency
8. Leiomyomatosis in an Infant With a SUFU Splice Site Variant: Case Report
9. Reuben Matalon, MD, PhD, FACMG (1935–2021)
10. Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG)
11. Clinical and molecular characterization of five new individuals withWAC‐related intellectual disability: Evidence of pathogenicity for a novel splicing variant
12. Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome
13. Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity
14. Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies
15. Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study
16. ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
17. Very Early-Onset Schizophrenia in a Six-Year-Old Boy
18. SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
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