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تقييد النتائج
التخصصات الرئيسية
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(228)
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Case Reports in Genetics
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مقالات
Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia
By: Hettiarachchi, D.; Pathirana, B. A. P. S.; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-7, 7 p.
مقالات
A Specific Diplotype H1jH2 of the MAPT Gene Could Be Responsible for Parkinson’s Disease with Dementia
By: Razine, Rachid; Bouslam, Naima; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-5, 5 p.
مقالات
Cytogenomic Abnormalities in 19 Cases of Salivary Gland Tumors of Parotid Gland Origin
By: Zerjav, Marie; Peng, Gang; Paracchini, Silvia…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-6, 6 p.
مقالات
Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation
By: Ruppert, Misty; Pyun, John; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-9, 9 p.
مقالات
Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric Tumors
By: Shin, Masahiro; Aburatani, Hiroyuki; Tanaka, Sakae…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-6, 6 p.
مقالات
Corrigendum to “Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review”
By: Choi, Jamie H.; Li, Rachel; Couser, Natario L.…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-1, 1 p.
مقالات
Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review
By: Quiroga-Carrillo, Manuela; Correa-Arrieta, Cristian; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-4, 4 p.
مقالات
Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies
By: Cerbino, G. N.; Assali, L. Abou; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-6, 6 p.
مقالات
Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka
By: Wijayabandara, Maheshi; Gamakaranage, Champika; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-5, 5 p.
مقالات
Hepatocellular Carcinoma in a 24-Year-Old Female with Beckwith–Wiedemann Syndrome: A Case Report and Review of the Literature
By: Ahlers, Carolyn G.; Trinh, Quoc-Huy; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-4, 4 p.
مقالات
A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype
By: Kambouris, Marios; Gerou, Spyridon; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-8, 8 p.
مقالات
An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination
By: Peterman, Leia A.; Vance, Gail H.; Paracchini, Silvia…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-8, 8 p.
مقالات
Novel Mutations in Pilomatrixoma, CTNNB1 p.s45F, and FGFR2 p.s252L: A Report of Three Cases Diagnosed by Fine-Needle Aspiration Biopsy, with Review of the Literature
By: Mitteldorf, Cristina Aparecida Troques da Silveira; Vilela, Rafael Sarlo; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-7, 7 p.
مقالات
A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period
By: Takahashi, Kiichi; Adachi, Hiroyuki; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-5, 5 p.
مقالات
A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy
By: Luo, Rong; He, Tao; Suri, Mohnish…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-7, 7 p.
مقالات
Eye Manifestations of Shprintzen–Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review
By: Choi, Jamie H.; Li, Rachel; Gannaway, Rachel…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-5, 5 p.
مقالات
“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case
By: Bonnet, Anne-Laure; Sceosole, Kevin; Mittal, Balraj…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-6, 6 p.
مقالات
Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated Syndrome
By: Kumar, Nihit; Mittal, Balraj; Zarate, Yuri A.. Case Reports in Genetics. No. 2020 (2020), pp.1-4, 4 p.
مقالات
Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies
By: Khattak, Shahzaib; Jan, Meryam; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-6, 6 p.
مقالات
Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature
By: Barkovich, E.; Suri, Mohnish; Gropman, A. L.. Case Reports in Genetics. No. 2020 (2020), pp.1-5, 5 p.
مقالات
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling
By: Helmi, Haytham; Hines, Stephanie L.; Ban, Yoshiyuki…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-7, 7 p.
مقالات
Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20
By: Galera, Marcial Francis; Kibriya, M. G.; Riegel, Mariluce…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-6, 6 p.
مقالات
Behçet Disease-Like Symptoms with a Novel COPA Mutation
By: Cardinal, J.; Yapijakis, C.; Coman, D.…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-4, 4 p.
مقالات
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy
By: al-Qattan, Mohammad M.; Jarman, Abdulaziz; Yapijakis, C.…[et al.]. Case Reports in Genetics. No. 2020 (2020), pp.1-5, 5 p.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
مقالات
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.
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