PP 76
A NOVEL MISSENSE MUTATION OUTSIDE DNAJ DOMAIN OF DNAJC21 IS ASSOCIATED WITH SHWACHMAN-DIAMOND SYNDROME
Mohammad Bilal Alsavaf1, Jeffrey M. Verboon2, Muhammed E. Dogan3, Zehra Busra Azizoglu4, Fatma Zehra Okus1, Alper Ozcan1, Munis Dundar3, Ahmet Eken4, Hamiyet Donmez Altıuntas5, Vijay G. Sankaran2, Ekrem Unal1
1 Division of Pediatric Hematology, Oncology & HSCT Center, Department of Pediatrics, Erciyes University, Faculty of Medicine
2 Division of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Boston
3 Department of Medical Genetic, Erciyes University
4 Gevher Nesibe Genom and Stem Cell Institution, Betul Ziya Eren Genome and Stem Cell Center (GENKOK), Erciyes University, Faculty of Medicine
5 Department of Medical Biology, Erciyes University, Faculty of Medicine
Lido
1682
Vezesque se leu este artigo
819
Total PDF
863
Total HTML
| Ano/Mês | Html | Total | |
|---|---|---|---|
| 2025 6 | 14 | 11 | 25 |
| 2025 5 | 42 | 15 | 57 |
| 2025 4 | 32 | 18 | 50 |
| 2025 3 | 46 | 12 | 58 |
| 2025 2 | 38 | 16 | 54 |
| 2025 1 | 35 | 19 | 54 |
| 2024 12 | 32 | 17 | 49 |
| 2024 11 | 33 | 28 | 61 |
| 2024 10 | 26 | 24 | 50 |
| 2024 9 | 32 | 19 | 51 |
| 2024 8 | 33 | 24 | 57 |
| 2024 7 | 31 | 24 | 55 |
| 2024 6 | 31 | 24 | 55 |
| 2024 5 | 33 | 24 | 57 |
| 2024 4 | 35 | 17 | 52 |
| 2024 3 | 30 | 18 | 48 |
| 2024 2 | 28 | 21 | 49 |
| 2024 1 | 21 | 20 | 41 |
| 2023 12 | 15 | 21 | 36 |
| 2023 11 | 17 | 21 | 38 |
| 2023 10 | 13 | 25 | 38 |
| 2023 9 | 14 | 28 | 42 |
| 2023 8 | 12 | 9 | 21 |
| 2023 7 | 16 | 12 | 28 |
| 2023 6 | 14 | 12 | 26 |
| 2023 5 | 15 | 15 | 30 |
| 2023 4 | 11 | 12 | 23 |
| 2023 3 | 9 | 20 | 29 |
| 2023 2 | 9 | 16 | 25 |
| 2023 1 | 6 | 17 | 23 |
| 2022 12 | 16 | 21 | 37 |
| 2022 11 | 8 | 15 | 23 |
| 2022 10 | 16 | 14 | 30 |
| 2022 9 | 15 | 29 | 44 |
| 2022 8 | 9 | 7 | 16 |
| 2022 7 | 10 | 26 | 36 |
| 2022 6 | 10 | 24 | 34 |
| 2022 5 | 6 | 19 | 25 |
| 2022 4 | 8 | 19 | 27 |
| 2022 3 | 11 | 22 | 33 |
| 2022 2 | 9 | 15 | 24 |
| 2021 1 | 8 | 20 | 28 |
| 2021 12 | 8 | 14 | 22 |
| 2021 11 | 6 | 15 | 21 |
Mostrar tudo
