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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
T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature
By: Ho, Kwo Wei David; Jerath, Nivedita U.; Mittal, Balraj. Case Reports in Genetics. No. 2018 (2018), pp.1-7, 7 p.
Journal Articles
Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene
By: Meyer, Brian F.; Paracchini, S.; Bohlega, Said A.…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-5, 5 p.
Journal Articles
Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing
By: Bouslam, Naima; Benomar, Ali; Yahyaoui, Mohamed…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-8, 8 p.
Journal Articles
Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait
By: Sambuughin, Nyamkhishig; Ren, Mingqiang; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-6, 6 p.
Journal Articles
Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene
By: Volk, Charles; Cotter, Philip D.; Matwiyoff, Gregory. Case Reports in Genetics. No. 2018 (2018), pp.1-3, 3 p.
Journal Articles
11p15.4 Microdeletion Associates with Hemihypertrophy
By: Puvabanditsin, Surasak; Jacob, Marianne; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-5, 5 p.
Journal Articles
Gastrointestinal Malignancy Presenting with a Virchow’s Node in a Patient with Rothmund-Thomson Syndrome
By: Nadeau, Kara; Mittal, Balraj; Brule, Michele. Case Reports in Genetics. No. 2018 (2018), pp.1-3, 3 p.
Journal Articles
Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability
By: Al-Hashmi, Nadia; Mohammed, Mohammed; Ichikawa, Shoji…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-3, 3 p.
Journal Articles
Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome
By: Swan, L.; Mittal, Balraj; Coman, D.…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-4, 4 p.
Journal Articles
V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I
By: Ho, Kwo Wei David; Cotter, Philip D.; Jerath, Nivedita U.. Case Reports in Genetics. No. 2018 (2018), pp.1-3, 3 p.
Journal Articles
A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma
By: Kokai, George; Cotter, Philip D.; Senniappan, Senthil…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-5, 5 p.
Journal Articles
Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants
By: Butler, Kameryn M.; Holt, Philip J.; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-4, 4 p.
Journal Articles
Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature
By: Couture, T.; Yapijakis, C.; Li, Peining…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-5, 5 p.
Journal Articles
Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children
By: Shenoy, Rathika Damodara; Shenoy, Vijaya; Paracchini, S.…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-5, 5 p.
Journal Articles
A Rare Case of Severe Congenital RYR1-Associated Myopathy
By: Laforgia, Nicola; Di Mauro, Antonio; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-7, 7 p.
Journal Articles
Biallelic Mismatch Repair Deficiency in an Adolescent Female
By: Valasek, Mark A.; Sivagnanam, Mamata; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-5, 5 p.
Journal Articles
LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient
By: Dimova, I.; Suri, Mohnish; Kremensky, Ivo. Case Reports in Genetics. No. 2018 (2018), pp.1-3, 3 p.
Journal Articles
Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy
By: Wang, Xike; Wu, Yue; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-6, 6 p.
Journal Articles
A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome
By: García-Delgado, C.; Vázquez-Martínez, Edgar Ricardo; Morán-Barroso, V. F.…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-3, 3 p.
Journal Articles
Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion
By: Swan, L.; Suri, Mohnish; Coman, D.. Case Reports in Genetics. No. 2018 (2018), pp.1-5, 5 p.
Journal Articles
Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm
By: Mohammad, Ahmed; Helmi, Haytham; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-4, 4 p.
Journal Articles
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema
By: Mohammad, Ahmed; Ichikawa, Shoji; Atwal, Paldeep S.…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-6, 6 p.
Journal Articles
Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1
By: Burn, Sabrina C.; Swift, Kali; Cotter, Philip D.…[et al.]. Case Reports in Genetics. No. 2018 (2018), pp.1-4, 4 p.