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ISSN: 2333-9721
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ISSN Print: 2090-6544

ISSN Online:

主页: https://www.hindawi.com/journals/crig/

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Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

Atwal, Paldeep S.,Broderick, Daniel,Caulfield, Thomas R.,Helmi, Haytham,Hines, Stephanie L.,Macklin, Sarah K.,Mohammad, Ahmed N.,Richter Jr., John E.,Samreen, Ayesha,Vadlamudi, Charitha,VanGerpen, Jay A.

Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20

Corrêa, Thiago,Galera, Marcial Francis,Riegel, Mariluce,Venancio, Amanda Cristina

Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy

Al-Hassnan, Zuhair N.,Al-Qattan, Mohammad M.,Alsufayan, Faris A. S.,Jarman, Abdulaziz,Mahabbat, Nehal,Rafique, Atif,Rahbeeni, Zuhair A.

Beh？et Disease-Like Symptoms with a Novel COPA Mutation

Anderson, E.,Cardinal, J.,Coman, D.,Hatch, J.,Langguth, D.

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