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10 results on '"Vandervore L."'

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1. Expanding the clinical spectrum of biallelic ZNF335 variants

2. Loss of neutral sphingomyelinase-3 (SMPD4) links neurodevelopmental disorders to cell cycle and nuclear envelope anomalies

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3. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

4. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

5. Aztreonam-avibactam synergy, a validation and comparison of diagnostic tools.

6. False positive Herpes Simplex IgM serology in COVID-19 patients correlates with SARS-CoV-2 IgM/IgG seropositivity.

7. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

8. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

9. Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.

10. Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.