Works matching IS 1178704X AND DT 2018 AND VI 11

Results: 20

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 45, doi. 10.2147/TACG.S141881
By:
- Tapiero-Rodriguez, Sandra M;
- Guio, Johanna C Acosta;
- Porras-Hurtado, Gloria Liliana;
- García, Natalia;
- Solano, Martha;
- Pachajoa, Harry;
- Velasco, Harvy M
Publication type:
Article
Clinical and molecular genetic features of Hb H and AE Bart's diseases in central Thai children.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 23, doi. 10.2147/TACG.S161152
By:
- Traivaree, Chanchai;
- Boonyawat, Boonchai;
- Monsereenusorn, Chalinee;
- Rujkijyanont, Piya;
- Photia, Apichat
Publication type:
Article
Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 89, doi. 10.2147/TACG.S155083
By:
- Ribeiro, Marina Guinda;
- Zunta, Gabriella Lucato;
- Santos, Jéssica Silva;
- Moraes, Aparecida Machado;
- Lima, Carmen Silvia Passos;
- Ortega, Manoela Marques
Publication type:
Article
Adult-onset type II citrullinemia: Current insights and therapy.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 163, doi. 10.2147/TACG.S162084
By:
- Hayasaka, Kiyoshi;
- Numakura, Chikahiko
Publication type:
Article
The role of PAX9 promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 145, doi. 10.2147/TACG.S183212
By:
- Abu-Siniyeh, Ahmed;
- Khabour, Omar F;
- Owais, Arwa I
Publication type:
Article
The genetics of congenital central hypoventilation syndrome: clinical implications.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 135, doi. 10.2147/TACG.S140629
By:
- Bishara, John;
- Keens, Thomas G;
- Perez, Iris A
Publication type:
Article
Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 129, doi. 10.2147/TACG.S172176
By:
- Alsemari, Abdulaziz;
- Alsuhaibani, Mohanned;
- Alhathlool, Rawabi;
- Ali, Bayan Mamdouh
Publication type:
Article
Novel ATP7A gene mutation in a patient with Menkes disease.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 151, doi. 10.2147/TACG.S180087
By:
- Caicedo-Herrera, Gabriela;
- Candelo, Estephania;
- Pinilla, Juan;
- Vidal, Andrés;
- Cruz, Santiago;
- Pachajoa, Harry Mauricio
Publication type:
Article
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 157, doi. 10.2147/TACG.S183418
By:
- Ríos-Serna, Lady J;
- Díaz-Ordoñez, Lorena;
- Candelo, Estephania;
- Pachajoa, Harry
Publication type:
Article
Association of mitochondrial DNA copy number with self-rated health status.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 121, doi. 10.2147/TACG.S167640
By:
- Takahashi, Paul Y;
- Jenkins, Gregory D;
- Welkie, Benjamin P;
- McDonnell, Shannon K;
- Evans, Jared M;
- Cerhan, James R;
- Olson, Janet E;
- Thibodeau, Steven N;
- Cicek, Mine S;
- Ryu, Euijung
Publication type:
Article
Pena-Shokeir syndrome: current management strategies and palliative care.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 111, doi. 10.2147/TACG.S154643
By:
- Adam, Sumaiya;
- Coetzee, Melantha;
- Honey, Engela Magdalena
Publication type:
Article
Aortic calcification in Gaucher disease: a case report.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 107, doi. 10.2147/TACG.S180995
By:
- Alsahli, Saud;
- Bubshait, Dalal K;
- Rahbeeni, Zuhair A;
- Alfadhel, Majid
Publication type:
Article
IRS-1 genetic polymorphism (r.2963G>A) in type 2 diabetes mellitus patients associated with insulin resistance.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 99, doi. 10.2147/TACG.S171096
By:
- Yousef, Anas A;
- Behiry, Eman G;
- Allah, Wafaa M Abd;
- Hussien, Ahmed M;
- Abdelmoneam, Abdelmoneam A;
- Imam, Mahmoud H;
- Hikal, Doaa M
Publication type:
Article
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 93, doi. 10.2147/TACG.S165799
By:
- Carneiro, Thaise NR;
- Krepischi, Ana CV;
- Costa, Silvia S;
- Silva, Israel Tojal da;
- Vianna-Morgante, Angela M;
- Valieris, Renan;
- Ezquina, Suzana AM;
- Bertola, Debora R;
- Otto, Paulo A;
- Rosenberg, Carla
Publication type:
Article
Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 81, doi. 10.2147/TACG.S158297
By:
- Shafae, Mohammed M El;
- Sabry, Jehan H;
- Behiry, Eman G;
- Sabry, Hanan H;
- Salim, Mona A;
- Fayez, Alaaeldin G
Publication type:
Article
Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 59, doi. 10.2147/TACG.S155955
By:
- Shah, Nidhi D;
- Shah, Parth S;
- Panchal, Yash Y;
- Katudia, Kalpesh H;
- Khatri, Nikunj B;
- Ray, Hari Shankar P;
- Bhatiya, Upti R;
- Shah, Sandip C;
- Shah, Bhavini S;
- Rao, Mandava V
Publication type:
Article
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 69, doi. 10.2147/TACG.S157235
By:
- Vanegas, Sara;
- Sua, Luz Fernanda;
- López-Tenorio, Jaime;
- Ramírez-Montaño, Diana;
- Pachajoa, Harry
Publication type:
Article
Tetrasomy 18p: case report and review of literature.
Published in:
2018
By:
- Bawazeer, Shahad;
- Alshalan, Maha;
- Alkhaldi, Aziza;
- AlAtwi, Nasser;
- AlBalwi, Mohammed;
- Alswaid, Abdulrahman;
- Alfadhel, Majid
Publication type:
Case Study
Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 31, doi. 10.2147/TACG.S150982
By:
- Alrukban, Hadeel;
- Chitayat, David
Publication type:
Article
Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 15, doi. 10.2147/TACG.S155022
By:
- Pachajoa, Harry;
- López-Quintero, William;
- Vanegas, Sara;
- Montoya, Claudia L;
- Ramírez-Montaño, Diana
Publication type:
Article

Works matching IS 1178704X AND DT 2018 AND VI 11

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA.

Clinical and molecular genetic features of Hb H and AE Bart's diseases in central Thai children.

Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age.

Adult-onset type II citrullinemia: Current insights and therapy.

The role of <em>PAX9</em> promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population.

The genetics of congenital central hypoventilation syndrome: clinical implications.

Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis.

Novel <em>ATP7A </em>gene mutation in a patient with Menkes disease.

A novel de novo <em>TBX5 </em>mutation in a patient with Holt-Oram syndrome.

Association of mitochondrial DNA copy number with self-rated health status.

Pena-Shokeir syndrome: current management strategies and palliative care.

Aortic calcification in Gaucher disease: a case report.

IRS-1 genetic polymorphism (r.2963G>A) in type 2 diabetes mellitus patients associated with insulin resistance.

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases.

Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia.

Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients.

Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis.

Tetrasomy 18p: case report and review of literature.

Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review.

Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.