Found: 23
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T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature.
- Published in:
- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/2618071
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- Publication type:
- Article
Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene.
- Published in:
- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/9468049
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- Article
Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.
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- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/8635698
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- Publication type:
- Article
Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait.
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- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6898546
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- Article
Birt-Hogg-Dubé Syndrome Caused by a Novel Mutation in the FLCL Gene.
- Published in:
- 2018
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- Publication type:
- Case Study
11p15.4 Microdeletion Associates with Hemihypertrophy.
- Published in:
- 2018
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- Publication type:
- Case Study
Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.
- Published in:
- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6737938
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- Article
Gastrointestinal Malignancy Presenting with a Virchow’s Node in a Patient with Rothmund-Thomson Syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome.
- Published in:
- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/2508345
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- Publication type:
- Article
V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.
- Published in:
- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/1898151
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- Publication type:
- Article
A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma.
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- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/1381730
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- Publication type:
- Article
Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants.
- Published in:
- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6308283
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- Publication type:
- Article
Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature.
- Published in:
- 2018
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- Publication type:
- Case Study
Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children.
- Published in:
- 2018
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- Publication type:
- Case Study
A Rare Case of Severe Congenital RYR1-Associated Myopathy.
- Published in:
- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6184185
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- Publication type:
- Article
Biallelic Mismatch Repair Deficiency in an Adolescent Female.
- Published in:
- 2018
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- Publication type:
- Case Study
LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient.
- Published in:
- 2018
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- Publication type:
- Case Study
A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy.
- Published in:
- 2018
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- Publication type:
- Case Study
Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion.
- Published in:
- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/2492437
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- Publication type:
- Article
Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm.
- Published in:
- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6780494
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- Publication type:
- Article
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema.
- Published in:
- Case Reports in Genetics, 2018, p. 1, doi. 10.1155/2018/6968395
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- Publication type:
- Article
Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1.
- Published in:
- 2018
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- Publication type:
- Case Study