Works matching IS 1658807X AND DT 2024 AND VI 7 AND IP 1

Results: 8

Genetic and clinical characterization of Niemann-Pick disease type C with homozygous NPC1 gene mutation: insights from whole exome sequencing and advanced neuroimaging of two familial cases.
Published in:
Journal of Biochemical & Clinical Genetics, 2024, v. 7, n. 1, p. 54, doi. 10.24911/JBCGenetics.183-1718405078
By:
- Karim, Hajira;
- Oria, Lima;
- Elmas, Muhsin
Publication type:
Article
Ring chromosome 8 [46 XY, r(8)]: array of manifestations in a 4 months old male child - a case report.
Published in:
Journal of Biochemical & Clinical Genetics, 2024, v. 7, n. 1, p. 48, doi. 10.24911/JBCGenetics.183-1717853866
By:
- Jindal, Ankur;
- Uppal, Komal;
- Polipalli, Sunil Kumar;
- Kapoor, Seema
Publication type:
Article
Polyendocrinopathy, deafness and albinism, a new combination syndrome.
Published in:
Journal of Biochemical & Clinical Genetics, 2024, v. 7, n. 1, p. 38, doi. 10.24911/JBCGenetics.183-1710231952
By:
- AlMughaizel, Isaq A.;
- Al-Bunyan, Abdulhameed A.;
- Al-saleh, Yassin M.;
- AlMoosa, Eman S.;
- Al-Shawi, Manal M.;
- AlMousa, Yaqoub Y.;
- AlJishi, Fatimah M.
Publication type:
Article
Mosaic embryo transfer after preimplantation genetic testing for structural rearrangement: a case study.
Published in:
Journal of Biochemical & Clinical Genetics, 2024, v. 7, n. 1, p. 31, doi. 10.24911/JBCGenetics.183-1708424799
By:
- Mahalingam, Shweta;
- Rasalkar, Rashmi;
- Lallar, Meenakshi;
- Pradhan, Avinash;
- Khairnar, Sneha;
- Kariyaiah, Satish;
- Devanboo, Angela;
- Venkataswamy, Eswarachari;
- Ramprasad, Vedam L.;
- Kadam, Priya
Publication type:
Article
Atypical down syndrome features with an atypical chromosomal rearrangement: a case report.
Published in:
Journal of Biochemical & Clinical Genetics, 2024, v. 7, n. 1, p. 28, doi. 10.24911/JBCGenetics.183-1677356499
By:
- Khalil, Hiba Abu;
- Almannai, Mohammed;
- Albalwi, Mohammed;
- Eyaid, Wafaa
Publication type:
Article
IHH gene variants in North Indian individuals with brachydactyly A1.
Published in:
Journal of Biochemical & Clinical Genetics, 2024, v. 7, n. 1, p. 19, doi. 10.24911/JBCGenetics.183-1717051282
By:
- Dhiman, Shalini;
- Panigrahi, Inusha;
- Gupta, Shifali;
- Kaur, Harvinder
Publication type:
Article
Kohlschütter-Tönz syndrome: clinical and genetic insight on patients with ROGDI variant.
Published in:
Journal of Biochemical & Clinical Genetics, 2024, v. 7, n. 1, p. 10, doi. 10.24911/JBCGenetics.183-1709130779
By:
- Muthaffar, Osama Y.;
- Abdulrahman, Lina M.;
- Alyazidi, Anas S.;
- Alotibi, Taif K.
Publication type:
Article
Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/or thrombocytopenia in Saudi Arabia.
Published in:
Journal of Biochemical & Clinical Genetics, 2024, v. 7, n. 1, p. 1, doi. 10.24911/JBCGenetics.183-1680730821
By:
- Al Saeed, Hussain H.;
- Alabbas, Fahad;
- Elyamany, Ghaleb;
- Alshehri, Abdulrahman;
- Al-Suliman, Ahmed M.;
- Kashari, Ohoud F.;
- Malik, Anees;
- Usman, Binyam;
- Sallam, Maha;
- Barnawi, Insherah;
- Ghita, Ibrahim S.;
- Masmali, Hassan;
- Alhejazi, Ayman
Publication type:
Article