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Biology
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Case Reports in Genetics
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Hindawi Publishing Corporation Cairo, Egypt :
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Journal Articles
A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy
By: Dekker, Marieke C. J.; Hamel, Ben C. J.; Royo, José Luis…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-5, 5 p.
Journal Articles
Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome
By: Morgan, T. M.; Colazo, J. M.; Ban, Yoshiyuki…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-8, 8 p.
Journal Articles
Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome
By: Moreira, Lília Maria Azevedo; Paracchini, S.; Riegel, Mariluce…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-10, 10 p.
Journal Articles
Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case
By: Sabir, A. H.; Ryan, G.; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-8, 8 p.
Journal Articles
Corrigendum to “Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features”
By: Riley, Jacquelyn D.; Stefaniuk, Catherine M.; Erenberg, Francine…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-1, 1 p.
Journal Articles
Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes
By: Hettiarachchi, D.; Dissanayake, Vajira H. W.; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-5, 5 p.
Journal Articles
Case of Inherited Partial AZFa Deletion without Impact on Male Fertility
By: Alksere, Baiba; Berzina, Dace; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-5, 5 p.
Journal Articles
Parallel Multi-Gene Panel Testing for Diagnosis of Idiopathic Hypogonadotropic HypogonadismKallmann Syndrome
By: Naik, Dukhabandhu; Paul, Thomas Vizhalil; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-3, 3 p.
Journal Articles
Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation
By: Jerath, Nivedita U.; Cotter, Philip D.. Case Reports in Genetics. No. 2019 (2019), pp.1-7, 7 p.
Journal Articles
Identifying a Novel DPYD Polymorphism Associated with Severe Toxicity to 5-FU Chemotherapy in a Saudi Patient
By: Bukhari, Nedal; Azam, Faisal; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-3, 3 p.
Journal Articles
Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome
By: Askaner, Gustav; Lei, Ulrikke; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-5, 5 p.
Journal Articles
Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features
By: Riley, Jacquelyn D.; Stefaniuk, Catherine M.; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-7, 7 p.
Journal Articles
A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes
By: Lindquist, Nathan R.; Appelbaum, Eric N.; Paracchini, S.…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-5, 5 p.
Journal Articles
Increasing Evidence for the Association of Breast Implant-Associated Anaplastic Large Cell Lymphoma and Li Fraumeni Syndrome
By: Adlard, Julian; Burton, Cathy; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-5, 5 p.
Journal Articles
Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder
By: Panigrahi, Inusha; Thapa, Babu R.; Kalra, Jasvinder…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-5, 5 p.
Journal Articles
First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism
By: Koufakis, Theocharis; Karras, Spyridon; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-5, 5 p.
Journal Articles
Ocular Manifestations of the NAA10-Related Syndrome
By: Gupta, Angela S.; Couser, Natario L.; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-6, 6 p.
Journal Articles
SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease
By: Ramirez, J. M.; Renna, Nicolas Federico; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-7, 7 p.
Journal Articles
Pallister-Hall Syndrome Presenting in Adolescence
By: Mahtabfar, Aria; Suri, Mohnish; Marshall, Ian…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-4, 4 p.
Journal Articles
Identification and Mapping of a 2,009-bp DNA Deletion in SERPING1 of a Hereditary Angioedema Patient
By: Wong, Wai-Yu; Wong, Helen; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-7, 7 p.
Journal Articles
Werner’s Syndrome: Understanding the Phenotype of Premature Aging—First Case Described in Colombia
By: Rincon, Alejandra; Mora, L.; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-4, 4 p.
Journal Articles
8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy
By: Rincon, Alejandra; Paez-Rojas, Paola; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-6, 6 p.
Journal Articles
A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia
By: Fujisawa, Taishi; Yapijakis, C.; Fukuda, Keiichi…[et al.]. Case Reports in Genetics. No. 2019 (2019), pp.1-3, 3 p.