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2. Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination. Issue 4 (10th December 2018)

3. Back Cover, Volume 43, Issue 7. Issue 7 (8th June 2022)

4. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Issue 10 (13th August 2019)

5. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia. Issue 2 (28th May 2022)

6. Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form. Issue 11 (5th September 2020)

7. Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum. Issue 7 (29th April 2014)

8. Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team. (15th August 2010)