1. A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

پدیدآورنده : Ali, Bassam R; Silhavy, Jennifer L; Akawi, Nadia A; Gleeson, Joseph G; Al-Gazali, Lihadh

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

2. ARMC 5 Variants and Risk of Hypertension in Blacks:

پدیدآورنده : Zilbermint, MihailGaye, AmadouBerthon, AnnabelHannah-Shmouni, FadyFaucz, Fabio RLodish, Maya BDavis, Adam RGibbons, Gary HStratakis, Constantine A

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

3. Applications of Next-Generation DNA Sequencing to the Identification of Rare Variants in Congenital Disorders of the Intestine and Brain

پدیدآورنده : Yourshaw, Michael

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

4. Clinical genomics /

پدیدآورنده : edited by Shashikant Kulkarni, John Pfeifer.

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

موضوع : Genomics.,Medical genetics.,Clinical Medicine.,Genomics.

رده :

RB155

.

C55

2015

5. Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia.

پدیدآورنده : Madan, V; Shyamsunder, P; Han, L; Mayakonda, A; Nagata, Y; Sundaresan, J; Kanojia, D; Yoshida, K; Ganesan, S; Hattori, N; Fulton, N; Tan, K-T; Alpermann, T; Kuo, M-C; Rostami, S; Matthews, J; Sanada, M; Liu, L-Z; Shiraishi, Y; Miyano, S; Chendamarai, E; Hou, H-A; Malnassy, G; Ma, T; Garg, M; Ding, L-W; Sun, Q-Y; Chien, W; et al.

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

6. Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.

پدیدآورنده : Ku, Cristy AHull, SarahArno, GavinVincent, AjoyCarss, KerenKayton, RobertWeeks, DouglasAnderson, Glenn WGeraets, RyanParker, CamillePearce, David AMichaelides, MichelMacLaren, Robert ERobson, Anthony GHolder, Graham EHeon, EliseRaymond, F LucyMoore, Anthony Tet al.

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

7. Exome Sequencing Reveals Gene Variants Involved in Methylation, Acetylation, and Chromatin Remodeling in Patients with Autism

پدیدآورنده : Bevilacqua, Jennifer Ann

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

8. FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.

پدیدآورنده : Khan, Shahid YVasanth, ShivakumarKabir, FirozGottsch, John DKhan, Arif OChaerkady, RaghothamaLee, Mei-Chong WLeitch, Carmen CMa, ZhiweiLaux, JulieVillasmil, RafaelKhan, Shaheen NRiazuddin, SheikhAkram, JavedCole, Robert NTalbot, C ConoverPourmand, NaderZaghloul, Norann Aet al.

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

9. Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.

پدیدآورنده : Ren, Yu; Diao, Feiyang; Katari, Sunita; Yatsenko, Svetlana; Jiang, Huaiyang; Wood-Trageser, Michelle A; Rajkovic, Aleksandar

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

10. Genetic evaluation in a patient with kidney and atrophy disease by whole-exome sequencing

پدیدآورنده : Hasan Abbodi Hasan al-Saigh,Abbodi Hasan al-Saigh,

کتابخانه: University of Tabriz Library, Documentation and Publication Center (East Azarbaijan)

موضوع : kidney and atrophy disease- whole-exome sequencing,کلیه و بیماری آتروفی- توالی یابی کل اگزوم

11. Identification of Genetic Factors in the Etiology of Autism Spectrum Disorder in Arab Families

پدیدآورنده : Yasser Ammar AlSarraj

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

موضوع : Genetics; Bioinformatics,Biological sciences;ASD;Autism;Whole Exome Sequencing

12. Identification of a novel mutation in the ST14 gene in an Iranian family with ichthyosis and hypotrichosis

پدیدآورنده : Taghavi-Basmenj, Maryam; Razipour, Masoumeh; Davoudi-Dehaghani, Elham; Nasimi, Maryam; Abghari, Fateme Zahedi; Karimipoor, Morteza

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

13. Identifying and analyzing genetic and epigenetic variation involved in cardiovascular diseases and related metabolic traits

پدیدآورنده : Nikkola, Elina

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

14. Investigating the validity and significance of variant calls by next generation sequencing (NGS)

پدیدآورنده : Yasmin Walid Jamil Abu Aqel

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

موضوع : Health sciences,Health and environmental sciences;Calls;Generation;Ngs;Sequencing;Variant

15. Investigation of SLA4A3 as a candidate gene for human retinal disease.

پدیدآورنده : Downs, Louise; Webster, Andrew; Moore, Anthony; Michaelides, Michel; Ali, Robin; Hardcastle, Alison; Mellersh, Cathryn

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

16. JIMD reports.

پدیدآورنده : Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

موضوع : Metabolism-- Disorders.,Metabolism, Inborn errors of.,HEALTH & FITNESS-- Diseases-- General.,MEDICAL-- Clinical Medicine.,MEDICAL-- Diseases.,MEDICAL-- Evidence-Based Medicine.,Medical genetics.,MEDICAL-- Internal Medicine.,Medical research.,Metabolism-- Disorders.,Metabolism, Inborn errors of.,Metabolism.,Paediatric medicine.

رده :

RC627

.

8

17. JIMD reports.

پدیدآورنده : Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahma, Johannes Zschocke, Verena Peters, editors.

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

موضوع : Human genetics.,Metabolism-- Disorders.,Human genetics.,MEDICAL-- Anatomy.,Metabolism-- Disorders.,SCIENCE-- Life Sciences-- Human Anatomy & Physiology.

رده :

QH431

.

J56

2019

18. Laboratory investigation of platelet function in patients with mild bleeding disorders

پدیدآورنده : Al Ghaithi, Rashid Hafidh Rashid

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

موضوع : QH301 Biology ; RC Internal medicine

19. Molecular and genetic basis of inherited optic neuropathies

پدیدآورنده : Flannery, Padraig James

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)

20. Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.

پدیدآورنده : Peled, Alon; Sarig, Ofer; Samuelov, Liat; Bertolini, Marta; Ziv, Limor; Weissglas-Volkov, Daphna; Eskin-Schwartz, Marina; Adase, Christopher A; Malchin, Natalia; Bochner, Ron; Fainberg, Gilad; Goldberg, Ilan; Sugawara, Koji; Baniel, Avital; Tsuruta, Daisuke; Luxenburg, Chen; Adir, Noam; Duverger, Olivier; et al.

کتابخانه: Center and Library of Islamic Studies in European Languages (Qom)