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Journal Abstract Search
1072 related items for PubMed ID: 20301745
1. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mercimek-Andrews S, Salomons GS. ; 1993. PubMed ID: 20301745 [Abstract] [Full Text] [Related]
2. ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes. Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, Hart K, Longo N, Liang N, Reich D, Wallis H, Weaver M, Young S, Mercimek-Andrews S. Mol Genet Metab; 2024 May; 142(1):108362. PubMed ID: 38452609 [Abstract] [Full Text] [Related]
3. Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Lichter-Konecki U, Caldovic L, Morizono H, Simpson K, Ah Mew N, MacLeod E. ; 1993 May. PubMed ID: 24006547 [Abstract] [Full Text] [Related]
4. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders. Stockler-Ipsiroglu S, van Karnebeek CD. Semin Neurol; 2014 Jul; 34(3):350-6. PubMed ID: 25192512 [Abstract] [Full Text] [Related]