Genotype-phenotype correlation in phenylketonuria by Alin Remus Iuhas, Claudia Jurca, Marius Bembea

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Rare among Rare: Phenotypes of Uncommon CMT Genotypes by Luca Gentile, Massimo Russo, Federica Taioli, Moreno Ferrarini, M’Hammed Aguennouz, Carmelo Rodolico, Antonio Toscano, Gian Maria Fabrizi, Anna Mazzeo

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Exploring the Genotype–Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers by Elisa Menozzi, Anthony H. V. Schapira

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A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis by Barbara Zapała, Olaf Chmura, Urszula Ciałowicz, Bogdan Solnica, Magdalena Krajewska-Włodarczyk, Zbigniew Żuber

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Two novel mutations identified in familial cases with Donohue syndrome by Tzipora C. Falik Zaccai, Limor Kalfon, Aharon Klar, Mordechai Ben Elisha, Haggit Hurvitz, Galina Weingarten, Emelia Chechik, Vered Fleisher Sheffer, Raid Haj Yahya, Gal Meidan, Eva Gross‐Kieselstein, Dvora Bauman, Sylvia Hershkovitz, Yuval Yaron, Avi Orr‐Urtreger, Efrat Wertheimer

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Hyperekplexia, Apneas, Developmental Delay, and Genetic Correlations by J Gordon Millichap

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TNFRSF1A gene variant identified in a boy with recurrent episodes of fever by Janković Srđa, Đuričić Goran, Radosavljević Aleksandra, Janić Dragana

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Genetic analysis of Turner syndrome in Tunisian patients: from diagnosis to management by Olfa Siala-Sahnoun, Fatma Laadhar, Mouna Mnif, Wajdi Sefi, Faten Hadj Kacem, Mohamed A Kessentini, Mohamed Abid, Faiza Fakhfakh

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Genetic and Clinical Profiles of Pheochromocytoma and Paraganglioma: A Single Center Study by Xiaosen Ma, Ming Li, Anli Tong, Fen Wang, Yunying Cui, Xuebin Zhang, Yushi Zhang, Shi Chen, Yuxiu Li

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Genotype‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome by Shunlai Shang, Fei Peng, Tao Wang, Xiaoyuan Wu, Ping Li, Qinggang Li, Xiang M. Chen

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Germline SDHB and SDHD mutations in pheochromocytoma and paraganglioma patients by Yiqiang Huang, Lin-ang Wang, Qiubo Xie, Jian Pang, Luofu Wang, Yuting Yi, Jun Zhang, Yao Zhang, Rongrong Chen, Weihua Lan, Dianzheng Zhang, Jun Jiang

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Genotype-Phenotype Correlations in Alternating Hemiplegia by J Gordon Millichap, John J Millichap

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Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic progressive neuropathy in conurban areas by Andreas Thimm, Saskia Bolz, Michael Fleischer, Benjamin Stolte, Sebastian Wurthmann, Andreas Totzeck, Alexander Carpinteiro, Peter Luedike, Maria Papathanasiou, Christoph Rischpler, Ken Herrmann, Tienush Rassaf, Lars Steinmüller-Magin, Christoph Kleinschnitz, Tim Hagenacker

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Genotype-Phenotype Variations of Renal Complications in Fabry Disease Q279X Mutation by Jacobo Villalobos, Carmen C. García, Juan Politei, Joaquin Frabasil, Virginia Colina

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Molecular genetic basis of epidermolysis bullosa by Yu. Yu. Kotalevskaya, V. A. Stepanov

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A Novel Compound Heterozygous Variant in the ABHD12 Gene Cause PHARC Syndrome in a Chinese Family: The Proband Presenting New Genotype and Phenotype by Meijiao Ma, Jinhai Ma, Yuanyuan Lian, Xueli Wu, Wenming Wang, Weining Rong, Xunlun Sheng

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The Importance of a Multidisciplinary Approach in the Management of a Patient with Type I Gaucher Disease by Miguel-Ángel Torralba-Cabeza, Susana Olivera-González, José-Luis Sierra-Monzón

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Improving the classification of cardinality phenotypes using collections by Sarah M. Alghamdi, Robert Hoehndorf

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Spinocerebellar ataxia type 40: A case report and literature review by Han Fengyue, Su Dan, Qu Chuanqiang

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Hypertension and the roles of the 9p21.3 risk locus: Classic findings and new association data by Juan E. Gallo, Juan E. Ochoa, Helen R. Warren, Elizabeth Misas, Monica M. Correa, Jaime A. Gallo-Villegas, Gabriel Bedoya, Dagnóvar Aristizábal, Juan G. McEwen, Mark J. Caulfield, Gianfranco Parati, Oliver K. Clay

Subjects: “…Genotype-phenotype associations…”
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