CrossRef Text and Data Mining
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Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients
Ji Ye Ahn, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae
Ann Child Neurol. 2022;30(3):120-126.   Published online June 22, 2022
DOI: https://doi.org/10.26815/acn.2022.00129

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Variable Phenotypes of ZC4H2-Associated Rare Disease in Six Patients
Annals of Child Neurology. 2022;30(3):120-126   Crossref logo
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A case report of rare ZC4H2 ‐associated disorders associated with three large hernias
Pediatrics International. 2020;62(8):985-986   Crossref logo
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Multilocus inheritance and variable disease expressivity in rare disease
Genomics of Rare Diseases. 2021;185-204   Crossref logo
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What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?
Orphanet Journal of Rare Diseases. 2021;16(1):   Crossref logo
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Alpha- 1-antitrypsin phenotypes and associated disease patterns in neurological patients
Acta Neurologica Scandinavica. 1995;91(5):394-398   Crossref logo
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Tu1943 Interleukin-18RAP Genotypes Are Associated With Distinct Clinical Phenotypes in Crohn's Disease Patients
Gastroenterology. 2014;146(5):S-878   Crossref logo
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Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes
Cell Stem Cell. 2012;11(2):264-278   Crossref logo
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Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients
Orphanet Journal of Rare Diseases. 2021;16(1):   Crossref logo
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The Variable in Common Variable Immunodeficiency: A Disease of Complex Phenotypes
The Journal of Allergy and Clinical Immunology: In Practice. 2013;1(6):557   Crossref logo
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Five novel TTR variants: associated phenotypes and structural consequences
Orphanet Journal of Rare Diseases. 2015;10(S1):   Crossref logo
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