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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Identification of new genes regulating nodule development in Medicago truncatula: an in-silico approach by Mahboobeh Azarakhsh, Sara Eslami, Maryam Moghadas, Zahra Ataei

“…Journal of Genetic Resources…”
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8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy by Alejandra Rincon, Paola Paez-Rojas, Fernando Suárez-Obando

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Preaxial Polydactyly of the Foot: Variable Expression of Trisomy 13 in a Case from Central Africa by Sébastien Mbuyi-Musanzayi, Aimé Lumaka, Bienvenu Yogolelo Asani, Toni Lubala Kasole, Prosper Lukusa Tshilobo, Prosper Kalenga Muenze, François Tshilombo Katombe, Koenraad Devriendt

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Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome by Michael T. Zimmermann, Raul A. Urrutia, Patrick R. Blackburn, Margot A. Cousin, Nicole J. Boczek, Eric W. Klee, Colleen Macmurdo, Paldeep S. Atwal

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Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency by Piotr K. Janicki, Sonia Vaida, Hamid A. B. AL-Mondhiry

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A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome by M. A. Ramirez-Garcia, O. F. Chacon-Camacho, C. Leyva-Hernandez, A. Cardenas-Conejo, J. C. Zenteno

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Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln) by Nivedita U. Jerath, Tiffany Grider, Michael E. Shy

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First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7 by Lindsay B. Henderson, Virginia L. Corson, Daniel O. Saul, Cynthia Anderson, Sarah Millard, Denise A. S. Batista, Karin J. Blakemore, Cheryl DeScipio

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Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes by Francesca Malvestiti, Francesco Benedicenti, Simona De Toffol, Sara Chinetti, Adelheid Höller, Beatrice Grimi, Gertrud Fichtel, Monica Braghetto, Cristina Agrati, Eleonora Bonaparte, Federico Maggi, Giuseppe Simoni, Francesca Romana Grati

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Characterisation of Fourteen Accessions of Trichosanthes cucumerina from Nigeria Using Internal Transcribed Spacer by Ann Osuagwu, Celestine Uzoma Aguoru, Lucky Osabuohien Omoigui, Joseph Olalekan Olasan

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Further Evidence That the CFTR Variant c.2620-6T>C Is Benign by Violet I. Wallerstein, Robert Wallerstein

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Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient by Farmaditya E. P. Mundhofir, Helger G. Yntema, Ineke van der Burgt, Ben C. J. Hamel, Sultana M. H. Faradz, Bregje W. M. van Bon

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Antimicrobial and Antibiofilm Activity of 4-Benzylidene-2-methyl-oxazoline-5-one against Pathogen Bacteria by Zahra Mortazavi, Mohamad Reza Islami, Moj Khaleghi

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A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia by Taishi Fujisawa, Yoshiyasu Aizawa, Yoshinori Katsumata, Akihiro Udo, Shogo Ito, Kazumasa Hatakeyama, Makoto Hirose, Hiroshi Miyama, Kazuaki Nakajima, Takahiko Nishiyama, Takehiro Kimura, Masamitsu Nitta, Kazuo Misumi, Seiji Takatsuki, Kenjiro Kosaki, Keiichi Fukuda

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Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature by Carlos Sánchez-Montenegro, Alejandra Vilanova-Sánchez, Saturnino Barrena-Delfa, Jair Tenorio, Fernando Santos-Simarro, Sixto García-Miñaur, Pablo Lapunzina, Leopoldo Martínez-Martínez

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An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine by Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J. Vernon

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