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Volume 2020
Main
Case Reports in Genetics
Volume 2020
Case Reports in Genetics
Volume 2020
1
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4 , DNASE1 , TRAP1 , and CREBBP Genes Presenting as a Relatively Mild RubinsteinâTaybi Syndrome Phenotype: A Case Report of a Saudi Boy
Al-Qattan, Mohammad M.
,
Rahbeeni, Zuhair A.
,
Al-Hassnan, Zuhair N.
,
Jarman, Abdulaziz
,
Rafique, Atif
,
Mahabbat, Nehal
,
Alsufayan, Faris A. S.
Journal:
Case Reports in Genetics
Year:
2020
Language:
english
File:
PDF, 2.52 MB
Your tags:
english, 2020
2
Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling
Richter Jr., John E.
,
Vadlamudi, Charitha
,
Macklin, Sarah K.
,
Samreen, Ayesha
,
Helmi, Haytham
,
Broderick, Daniel
,
Mohammad, Ahmed N.
,
Hines, Stephanie L.
,
VanGerpen, Jay A.
,
Atwal, Paldeep S.
,
Caulfie
Journal:
Case Reports in Genetics
Year:
2020
File:
PDF, 669 KB
Your tags:
2020
3
Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20
Corrêa, Thiago
,
Venâncio, Amanda Cristina
,
Galera, Marcial Francis
,
Riegel, Mariluce
Journal:
Case Reports in Genetics
Year:
2020
Language:
english
File:
PDF, 3.03 MB
Your tags:
english, 2020
4
Behçet Disease-Like Symptoms with a Novel COPA Mutation
Anderson, E.
,
Hatch, J.
,
Cardinal, J.
,
Langguth, D.
,
Coman, D.
Journal:
Case Reports in Genetics
Year:
2020
File:
PDF, 1.46 MB
Your tags:
2020
5
Late Onset Ornithine Transcarbamylase Deficiency Triggered by an Acute Increase in Protein Intake: A Review of 10 Cases Reported in the Literature
Barkovich, E.
,
Gropman, A. L.
Journal:
Case Reports in Genetics
Year:
2020
File:
PDF, 1.13 MB
Your tags:
2020
6
âIsolatedâ Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case
Bonnet, Anne-Laure
,
Sceosole, Kevin
,
Vanderzwalm, Arabelle
,
Silve, Caroline
,
Collignon, Anne-Margaux
,
Gaucher, Celine
Journal:
Case Reports in Genetics
Year:
2020
File:
PDF, 2.81 MB
Your tags:
2020
7
Managing Sleep and Behavioral Problems in a Preschooler with SATB2 -Associated Syndrome
Kumar, Nihit
,
Zarate, Yuri A.
Journal:
Case Reports in Genetics
Year:
2020
File:
PDF, 1.21 MB
Your tags:
2020
8
A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with EmeryâDreifuss Muscular Dystrophy
Dai, Xiafei
,
Luo, Rong
,
Chen, Yang
,
Zheng, Chenqing
,
Tang, Yibin
,
Zhang, Hongmei
,
Su, Ye
,
He, Tao
,
Li, Xiaoping
Journal:
Case Reports in Genetics
Year:
2020
File:
PDF, 5.47 MB
Your tags:
2020
9
Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies
Khattak, Shahzaib
,
Jan, Meryam
,
Warsi, Sara
,
Khattak, Sohail
Journal:
Case Reports in Genetics
Year:
2020
File:
PDF, 3.21 MB
Your tags:
2020
10
A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal Period
Takahashi, Kiichi
,
Adachi, Hiroyuki
,
Toyono, Manatomo
,
Ito, Masato
,
Kato, Akie
,
Noguchi, Atsuko
,
Takahashi, Tsutomu
Journal:
Case Reports in Genetics
Year:
2020
File:
PDF, 4.10 MB
Your tags:
2020
11
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
Silveira Mitteldorf, Cristina Aparecida Troques da
,
Vilela, Rafael Sarlo
,
Fugimori, Melissa Lissae
,
Godoy, Carla Daniele de
,
Coudry, Renata de Almeida
Journal:
Case Reports in Genetics
Year:
2020
File:
PDF, 1.99 MB
Your tags:
2020
12
An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination
Peterman, Leia A.
,
Vance, Gail H.
,
Conboy, Erin E.
,
Anderson, Katelynn
,
Weaver, David D.
Journal:
Case Reports in Genetics
Year:
2020
File:
PDF, 2.70 MB
Your tags:
2020
13
Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype
Agakidou, Eleni
,
Agakidis, Charalampos
,
Kambouris, Marios
,
Printza, Nicoleta
,
Farini, Maria
,
Vourda, Elina
,
Gerou, Spyridon
,
Sarafidis, Kosmas
Journal:
Case Reports in Genetics
Year:
2020
File:
PDF, 1.40 MB
Your tags:
2020
14
Hepatocellular Carcinoma in a 24-Year-Old Female with BeckwithâWiedemann Syndrome: A Case Report and Review of the Literature
Ahlers, Carolyn G.
,
Trinh, Quoc-Huy
,
Montenovo, Martin
,
Mittal, Balraj
Journal:
Case Reports in Genetics
Year:
2020
File:
PDF, 2.94 MB
Your tags:
2020
15
Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies
Cerbino, G. N.
,
Assali, L. Abou
,
Varela, L. S.
,
Tomassi, L.
,
Batlle, A.
,
Parera, V. E.
,
Rossetti, M. V.
,
Mittal, Balraj
Journal:
Case Reports in Genetics
Year:
2020
File:
PDF, 1.88 MB
Your tags:
2020
16
Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review
Quiroga-Carrillo, Manuela
,
Correa-Arrieta, Cristian
,
Ortiz-Corredor, Fernando
,
Suarez-Obando, Fernando
,
Mittal, Balraj
Journal:
Case Reports in Genetics
Year:
2020
File:
PDF, 1.11 MB
Your tags:
2020
17
Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka
Wijayabandara, Maheshi
,
Gamakaranage, Champika
,
Hettiarachchi, Dineshani
,
Mittal, Balraj
Journal:
Case Reports in Genetics
Year:
2020
File:
PDF, 1.12 MB
Your tags:
2020
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