Hasil Pencarian - Afaf Alsagheir

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  1. 1
    Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact

    Congenital adrenal hyperplasia with maple syrup urine disease: an example of consanguinity impact oleh Zuhair Rahbeeni, Afaf Alsagheir, Angham Al-Mutair

    Diterbitkan 2019-12-01
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  2. 2
    A Saudi child with Sphingosine Phosphate Lyase insufficiency syndrome

    A Saudi child with Sphingosine Phosphate Lyase insufficiency syndrome oleh Lamya Ahmad Faisal Alrayes, Mohammed Alotaibi, Afaf Alsagheir

    Diterbitkan 2021-06-01
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  3. 3
    Graves’ disease thyroid dermopathy: a case report

    Graves’ disease thyroid dermopathy: a case report oleh Loay Tashkandi, Afaf Alsagheir, Saud Alobaida, Raghad Alhuthil

    Diterbitkan 2024-04-01
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  4. 4
    Munchausen syndrome by proxy: a case report

    Munchausen syndrome by proxy: a case report oleh Fadiah Alkhattabi, Israa Bamogaddam, Afaf Alsagheir, Abdullah Al-Ashwal, Raghad Alhuthil

    Diterbitkan 2023-04-01
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  5. 5
    Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report

    Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report oleh Mariam Abdelkarim, Dalal Alageel, Faridul Ahsan, Raghad Alhuthil, Haifa Alsarhani, Afaf Alsagheir

    Diterbitkan 2023-12-01
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  6. 6
    Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation

    Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating PTH mutation oleh Noha Mukhtar, Balgees Alghamdi, Meshael Alswailem, Afaf Alsagheir, Ali S. Alzahrani, Ali S. Alzahrani

    Diterbitkan 2024-10-01
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  7. 7
    Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia

    Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia oleh Afaf Alsagheir, Abdullah Al-Ashwal, Amal Binladen, Raghad Alhuthil, Faisal Joueidi, Khushnooda Ramzan, Faiqa Imtiaz

    Diterbitkan 2024-05-01
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  8. 8
    The growth hormone–insulin-like growth factor-I axis in the diagnosis and treatment of growth disorders

    The growth hormone–insulin-like growth factor-I axis in the diagnosis and treatment of growth disorders oleh Werner F Blum, Abdullah Alherbish, Afaf Alsagheir, Ahmed El Awwa, Walid Kaplan, Ekaterina Koledova, Martin O Savage

    Diterbitkan 2018-06-01
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  9. 9
    Information needs on type 1 diabetes mellitus (T1DM) and its management in children and adolescents: a qualitative study

    Information needs on type 1 diabetes mellitus (T1DM) and its management in children and adolescents: a qualitative study oleh Noraida Mohamed Shah, Sasha Muhammed Elamin, Nur Fitrah Muhamad Arshad, Adyani Md Redzuan, Siti Azdiah Abdul Aziz, Joyce Hong, Xin Yun Chua, Bassam Saleh Bin-Abbas, Afaf Alsagheir

    Diterbitkan 2024-04-01
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  10. 10
    The clinical characteristics and quality of life of 248 pediatric and adult patients with Congenital Adrenal Hyperplasia

    The clinical characteristics and quality of life of 248 pediatric and adult patients with Congenital Adrenal Hyperplasia oleh Edi A. Shafaay, Edi A. Shafaay, Mohammed A. Aldriweesh, Mohammed A. Aldriweesh, Ghadeer L. Aljahdali, Ghadeer L. Aljahdali, Amir Babiker, Amir Babiker, Amir Babiker, Abdulrahman O. Alomar, Abdulrahman O. Alomar, Khulood M. Alharbi, Haneen Aldalaan, Ahmed Alenazi, Ahmed Alenazi, Abdulaziz S. Alangari, Abdulaziz S. Alangari, Afaf Alsagheir, Afaf Alsagheir, Bas P. H. Adriaansen, Hedi L. Claahsen – van der Grinten, Ibrahim Al Alwan, Ibrahim Al Alwan, Ibrahim Al Alwan

    Diterbitkan 2023-06-01
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  11. 11
    Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa

    Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa oleh Saif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani, Somaya Alzelaye, Nadia Alghazir, Imad Brema, Hussain Alsaffar, Mohammed Al Dubayee, Awad Alshahrani, Yasmine Abdelmeguid, Omneya M. Omar, Najya Attia, Elham Al Amiri, Jamal Al Jubeh, Albandari Algethami, Haya Alkhayyat, Azad Haleem, Mouza Al Yahyaei, Ines Khochtali, Saleha Babli, Ahmed Nugud, Nandu Thalange, Sarah Albalushi, Nadia Hergli, Asma Deeb, Majid Alfadhel

    Diterbitkan 2024-03-01
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  12. 12
    Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

    Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics oleh Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, Hanan E. Shamseldin, Nisha Patel, Fatema Alzahrani, Tarfa AlSheddi, Eman AlObeid, Mona Alenazi, Hessa S. Alsaif, Maha Alqahtani, Maha AlAli, Hatoon Al Ali, Rana Helaby, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadine Hanna, Dorota Monies, Nada Derar, Afaf Alsagheir, Amal Alhashem, Badr Alsaleem, Hamoud Alhebbi, Sami Wali, Ramzan Umarov, Xin Gao, Fowzan S. Alkuraya

    Diterbitkan 2020-06-01
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