V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I by Kwo Wei David Ho, Nivedita U. Jerath

“…Case Reports in Genetics…”
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A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period by Kiichi Takahashi, Hiroyuki Adachi, Manatomo Toyono, Masato Ito, Akie Kato, Atsuko Noguchi, Tsutomu Takahashi

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Vascular Pathology in Alpha 1 Antitrypsin Deficient Chronic Obstructive Pulmonary Disease and Emphysema Patients: Case Reports by Gordon M, Gangemi AJ, Sandwith EL, Kumaran M, Kueppers F

“…The Application of Clinical Genetics…”
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Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features by Jennifer L. Roberts, Stephanie K. Gandomi, Melissa Parra, Ira Lu, Chia-Ling Gau, Majed Dasouki, Merlin G. Butler

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Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea by Usha R. Dutta, Vijaya Kumar Pidugu, Ashwin Dalal

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Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 Genes by Matthew J. Garabedian, Donna Wallerstein, Nubia Medina, James Byrne, Robert J. Wallerstein

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Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case by A. H. Sabir, G. Ryan, Z. Mohammed, J. Kirk, N. Kiely, M. Thyagarajan, T. Cole

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Prenatal Diagnosis of Fetal Peters’ Plus Syndrome: A Case Report by Neerja Gupta, Anita Kaul, Madhulika Kabra

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Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene by Teva Brender, Donna Wallerstein, John Sum, Robert Wallerstein

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A Rare Case of Severe Congenital RYR1-Associated Myopathy by Nicola Laforgia, Manuela Capozza, Lucrezia De Cosmo, Antonio Di Mauro, Maria Elisabetta Baldassarre, Francesca Mercadante, Anna Laura Torella, Vincenzo Nigro, Nicoletta Resta

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A variant W chromosome in Centromochlus heckelii (Siluriformes, Auchenipteridae) and the role of repeated DNA in its heteromorphism by Chrystian Aparecido Grillo Haerter, Patrik Ferreira Viana, Fábio Hiroshi Takagui, Sandro Tonello, Vladimir Pavan Margarido, Daniel Rodrigues Blanco, Josiane Baccarin Traldi, Roberto Laridondo Lui, Eliana Feldberg

“…Genetics and Molecular Biology…”
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Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome by Tanjung A. Sumekar, Aneel A. Ashrani, Tri I. Winarni, Randi J. Hagerman

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Sequencing effects of small-sided games and high-intensity interval training on physical and physiological performance of young soccer players during pre-season by Kharatzadeh Masoud, Morgans Ryland, Thapa Rohit K., Oliveira Rafael, Faramarzi Mohammad

“…Biomedical Human Kinetics…”
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Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations by Nirmala D. Sirisena, U. Kalpani S. Wijetunge, Ramya de Silva, Vajira H. W. Dissanayake

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Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding by Julie Fischer, Luis Rohena

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Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome by Thi Kim Lien Nguyen, Van Dem Pham, Thu Huong Nguyen, Trung Kien Pham, Thi Quynh Huong Nguyen, Huy Hoang Nguyen

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Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome by Euthymia Vargiami, Athina Ververi, Hamda Al-Mutawa, Georgia Gioula, Spyridon Gerou, Fotios Rouvalis, Marios Kambouris, Dimitrios I. Zafeiriou

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Corrigendum to “Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features” by Jacquelyn D. Riley, Catherine M. Stefaniuk, Francine Erenberg, Angelika L. Erwin, Lauren Palange, Caroline Astbury

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Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia by Leema Reddy Peddareddygari, Raji P. Grewal

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MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis by Anna Dabkowska-Huc, Piotr Skalba, Antoni Pyrkosz

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