11 results on '"Emmerich, Denise"'
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2. Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model
3. GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting
4. Erratum: Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
5. Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient
6. Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient
7. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
8. Multiscale, Converging Defects of Macro-Porosity, Microstructure and Matrix Mineralization Impact Long Bone Fragility in NF1
9. Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient.
10. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
11. Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model
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