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Articles from Case Reports in Genetics (January 1, 2018)

1-21 out of 21 article(s)
Title Author Type Words
11p15.4 Microdeletion Associates with Hemihypertrophy. Puvabanditsin, Surasak; Sadiq, Mehrin; Jacob, Marianne; Jalil, Maaz; Cabrera, Kenya; Choudry, Omer; 1570
A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular Carcinoma. Blackburn, James; Giri, Dinesh; Ciolka, Barbara; Gossan, Nicole; Didi, Mohammad; Kokai, George; Wagh 2792
A Rare Case of Severe Congenital RYRl-Associated Myopathy. Laforgia, Nicola; Capozza, Manuela; de Cosmo, Lucrezia; Di Mauro, Antonio; Baldassarre, Maria Elisab 3717
Biallelic Mismatch Repair Deficiency in an Adolescent Female. Hildreth, Amber; Valasek, Mark A.; Thung, Irene; Savides, Thomas; Sivagnanam, Mamata; Ramamoorthy, S 2083
Birt-Hogg-Dube Syndrome Caused by a Novel Mutation in the FLCL Gene. Volk, Charles; Matwiyoff, Gregory 1448
Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children. Shenoy, Rathika Damodara; Shenoy, Vijaya; Shetty, Vikram 2383
Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome. Swan, L.; Gole, G.; Sabesan, V.; Cardinal, J.; Coman, D. 2294
Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants. Butler, Kameryn M.; Holt, Philip J.; Milla, Sarah S.; da Silva, Cristina; Alexander, John J.; Escayg 2106
Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability. Hashmi, Nadia Al-; Mohammed, Mohammed; Kathir, Salim Al-; Yarubi, Naeema Al-; Scott, Patrick 1410
Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene. Wakil, Salma M.; Monies, Dorota; Hagos, Samya; Al-Ajlan, Fahad; Finsterer, Josef; Al Qahtani, Aisha; 3226
Gastrointestinal Malignancy Presenting with a Virchow's Node in a Patient with Rothmund-Thomson Syndrome. Nadeau, Kara; Brule, Michele Report 1737
Genetic Analysis of Undiagnosed Juvenile GMl-Gangliosidosis by Microarray and Exome Sequencing. Bouhouche, Ahmed; Tibar, Houyam; Kriouale, Yamna; Jiddane, Mohammed; Smaili, Imane; Bouslam, Naima; Report 4805
Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of Literature. Couture, T.; Amato, K.; DiAdamo, A.; Li, P. 2690
LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient. Dimova, Ivanka; Kremensky, Ivo 2137
Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait. Sambuughin, Nyamkhishig; Ren, Mingqiang; Capacchione, John F.; Mungunsukh, Ognoon; Chuang, Kevin; Ho 3621
Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy. Wang, Xike; Wu, Yue; Cui, Yuxia; Wang, Nan; Folkersen, Lasse; Wang, Yuchuan 2853
Ocular Manifestations of a Novel Proximal 19p13.3 Microdeletion. Swan, L.; Coman, D. 2955
Patient with Marfan Syndrome and a Novel Variant in FBN1 Presenting with Bilateral Popliteal Artery Aneurysm. Mohammad, Ahmed; Helmi, Haytham; Atwal, Paldeep S. 2252
Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1. Burn, Sabrina C.; Swift, Kali; Palmquist, Maria 2197
V144D Mutation of SPTLC1 Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I. Ho, Kwo Wei David; Jerath, Nivedita U. 1296
Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema. Harris, Antoneicka L.; Blackburn, Patrick R.; Richter, John E., Jr.; Gass, Jennifer M.; Caulfield, T 4479

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