Works matching IS 1178704X AND DT 2020 AND VI 13

Results: 23

Alternating Hemiplegia of Childhood: Understanding the Genotype–Phenotype Relationship of ATP1A3 Variations.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 71, doi. 10.2147/TACG.S210325

By:

Capuano, Alessandro;
Garone, Giacomo;
Tiralongo, Giuseppe;
Graziola, Federica

Publication type:

Article

Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 49, doi. 10.2147/TACG.S239917

By:

Martínez, MC Alonzo;
Cazorla, E;
Cánovas, E;
Anniuk, K;
Cores, AE;
Serrano, AM

Publication type:

Article

Alkaptonuria: Current Perspectives.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 37, doi. 10.2147/TACG.S186773

By:

Zatkova, Andrea;
Ranganath, Lakshminarayan;
Kadasi, Ludevit

Publication type:

Article

PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 57, doi. 10.2147/TACG.S232448

By:

Forero-Delgadillo, Jessica María;
Cleves, Daniela;
Ochoa, Vanessa;
Londoño-Correa, Hernando;
Restrepo, Jaime Manuel;
Nastasi-Catanese, José Antonio;
Pachajoa, Harry

Publication type:

Article

Role of Adiponectin Gene and Receptor Polymorphisms and Their mRNA Levels with Serum Adiponectin Level in Myocardial Infarction.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 241, doi. 10.2147/TACG.S282843

By:

Saleh, Amany A;
Tayel, Safaa I;
Shalaby, Awny Gamal;
naidany, Sherin Sobhy El

Publication type:

Article

Incidence of HNF1A and GCK MODY Variants in a South African Population.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 209, doi. 10.2147/TACG.S281872

By:

Matsha, Tandi E;
Raghubeer, Shanel;
Tshivhase, Abegail M;
Davids, Saarah FG;
Hon, Gloudina M;
Bjørkhaug, Lise;
Erasmus, Rajiv T

Publication type:

Article

Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 221, doi. 10.2147/TACG.S275992

By:

Altamimi, Eyad;
Khanfar, Mariam;
Rabab'h, Omar;
Dardas, Zain;
Srour, Luma;
Mustafa, Lina;
Azab, Bilal

Publication type:

Article

A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 233, doi. 10.2147/TACG.S282240

By:

Velandia-Piedrahita, Camilo Andres;
Morel, Adrien;
Fonseca-Mendoza, Dora Janeth;
Huertas-Quiñones, Victor Manuel;
Castillo, David;
Bonilla, Juan Diego;
Hernandez-Toro, Camilo José;
Miranda-Fernández, Marta Catalina;
Restrepo, Carlos Martin;
Cabrera, Rodrigo

Publication type:

Article

Voretigene Neparvovec and Gene Therapy for Leber's Congenital Amaurosis: Review of Evidence to Date.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 179, doi. 10.2147/TACG.S230720

By:

Padhy, Srikanta Kumar;
Takkar, Brijesh;
Narayanan, Raja;
Venkatesh, Pradeep;
Jalali, Subhadra

Publication type:

Article

The Human Genetic Variants CYP2J2 rs2280275 and EPHX2 rs751141 and Risk of Diabetic Nephropathy in Egyptian Type 2 Diabetic Patients.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 165, doi. 10.2147/TACG.S281502

By:

Habieb, Mona S;
Dawood, Ashraf A;
Emara, Mahmoud M;
Elhelbawy, Mohammad G;
Elhelbawy, Nesreen G

Publication type:

Article

Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 159, doi. 10.2147/TACG.S238715

By:

Pachajoa, Harry;
Claros-Hulbert, Angelica;
García-Quintero, Ximena;
Perafan, Lina;
Ramirez, Andres;
Zea-Vera, Andres F

Publication type:

Article

Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 147, doi. 10.2147/TACG.S251581

By:

Torres-Canchala, Laura;
Castaño, Daniela;
Silva, Nathalia;
Gómez, Ana María;
Victoria, Alejandro;
Pachajoa, Harry

Publication type:

Article

A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 151, doi. 10.2147/TACG.S261781

By:

Karimi, Amir Hossein;
Karimi, Mohammad Reza;
Farnia, Poopak;
Parvini, Farshid;
Foroutan, Majid

Publication type:

Article

The Influence of IL-1B Gene Polymorphisms on H. pylori Infection and Triple Treatment Response Among Jordanian Population.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 139, doi. 10.2147/TACG.S253778

By:

Shakhatreh, Muhamad Ali K;
Khabour, Omar F;
Alzoubi, Karem H;
BaniHani, Mohammed N;
Abu-Siniyeh, Ahmed;
Bashir, Nabil A;
Sabi, Salsabeel H;
Mahafdah, Mahmoud

Publication type:

Article

The Impact of the Genetic Polymorphism in DNA Repair Pathways on Increased Risk of Glioblastoma Multiforme in the Arab Jordanian Population: A Case–Control Study.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 115, doi. 10.2147/TACG.S248994

By:

Al-Khatib, Sohaib M;
Abdo, Nour;
Al-Eitan, Laith N;
Al-Mistarehi, Abdel-Hameed W;
Zahran, Deeb Jamil;
Ajlouni, Marwan Al;
Kewan, Tariq Zuheir

Publication type:

Article

Germline Sequencing Identifies Rare Variants in Finnish Subjects with Familial Germ Cell Tumors.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 127, doi. 10.2147/TACG.S245093

By:

Crowgey, Erin L;
Soini, Tea;
Shah, Nidhi;
Pauniaho, Satu-Liisa;
Lahdenne, Pekka;
Wilson, David B;
Heikinheimo, Markku;
Druley, Todd E

Publication type:

Article

Haptoglobin Gene Polymorphism in Patients with Sickle Cell Anemia: Findings from a Nigerian Cohort Study.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 107, doi. 10.2147/TACG.S246607

By:

Olatunya, Oladele Simeon;
Albuquerque, Dulcineia Martins;
Santos, Magnun Nueldo Nunes;
Kayode, Tolorunju Segun;
Adekile, Adekunle;
Costa, Fernando Ferreira

Publication type:

Article

Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 83, doi. 10.2147/TACG.S198178

By:

Batista, Rafael Loch;
Mendonca, Berenice Bilharinho

Publication type:

Article

Association of Cholinergic Muscarinic M4 Receptor Gene Polymorphism with Schizophrenia.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 97, doi. 10.2147/TACG.S247174

By:

Pozhidaev, Ivan V;
Boiko, Anastasiia S;
Loonen, Anton JM;
Paderina, Diana Z;
Fedorenko, Olga Yu;
Tenin, Gennadiy;
Kornetova, Elena G;
Semke, Arkadiy V;
Bokhan, Nikolay A;
Wilffert, Bob;
Ivanova, Svetlana A

Publication type:

Article

Sjogren-Larsson Syndrome: Mechanisms and Management.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 13, doi. 10.2147/TACG.S193969

By:

Bindu, Parayil Sankaran

Publication type:

Article

A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 63, doi. 10.2147/TACG.S243148

By:

Pinilla-Monsalve, Gabriel D;
Lores, Juliana;
Pachajoa, Harry;
León, Juan D López-Ponce de;
López, Alejandro;
Rodríguez-Rojas, Lisa X;
Nastasi-Catanese, José A

Publication type:

Article

The Importance of Small Non-Coding RNAs in Human Reproduction: A Review Article.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 1, doi. 10.2147/TACG.S207491

By:

Kamalidehghan, Behnam;
Habibi, Mohsen;
Afjeh, Sara S;
Shoai, Maryam;
Alidoost, Saeideh;
Ghale, Rouzbeh Almasi;
Eshghifar, Nahal;
Pouresmaeili, Farkhondeh

Publication type:

Article

Metabolic Syndrome as a Risk Factor for Sensorineural Hearing Loss in Adult Patients with Turner Syndrome.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 25, doi. 10.2147/TACG.S229828

By:

Álvarez-Nava, Francisco;
Racines-Orbe, Marcia;
Witt, Julia;
Guarderas, Jéssica;
Vicuña, Yosselin;
Estévez, María;
Lanes, Roberto

Publication type:

Article