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You searched for: Author/Creator Bramswig, Nuria C.

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1. ANKRD11 variants: KBG syndrome and beyond. Issue 2 (14th May 2021)

2. Comprehensive neurological evaluation of a cohort of patients with neurofibromatosis type 1 from a single institution. (March 2023)

3. DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies. Issue 11 (7th August 2015)

4. Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort. Issue 9 (4th July 2018)

5. Epilepsy in KCNH1‐related syndromes. Issue 2 (June 2016)

6. Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. Issue 7 (12th March 2020)