Treffer 1 - 6 von 6 für Suche 'Zehri, Zamrud', Suchdauer: 0,80s Treffer weiter einschränken
  1. 1
    Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder

    Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder von Afsar, Tayyaba, Fu, Hongxia, Khan, Hammal, Ali, Zain, Zehri, Zamrud, Zaman, Gohar, Abbas, Safdar, Mahmood, Arif, Alam, Qamre, Hu, Junjian, Razak, Suhail, Umair, Muhammad

    Veröffentlicht in Frontiers in genetics

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  2. 2
    A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A

    A biallelic variant in IQCE predisposed to cause non-syndromic post-axial polydactyly type A von Bilal, Muhammad, Raheel, Muhammad, Hassan, Gul, Zeb, Shah, Mahmood, Arif, Zehri, Zamrud, Manzoor, Hafiza, Umair, Muhammad


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  3. 3
    Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene

    Uncovering the genetic basis of hyperphosphatasia with impaired intellectual development syndrome type 2: identification of a novel biallelic nonsense mutation in PIGO gene von Nayab, Anam, Andleeb, Shagufta, Zeb, Shah, Manzoor, Hafiza, Zehri, Zamrud, Mahmood, Arif, Khan, Hammal, Umair, Muhammad, Waqas, Ahmed


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  4. 4
    Delineating the Disease Boundaries: Homozygous CDC14A Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome

    Delineating the Disease Boundaries: Homozygous CDC14A Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome von Zehri, Zamrud, Khan, Hammal, Ahmed, Sohail, Khan, Muhammad Javed, Shahwani, Nisar Ahmed, Nawaz, Shoaib, Umair, Muhammad

    Veröffentlicht in Molecular syndromology

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  5. 5
    A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1‐associated neurodevelopmental disorder

    A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1‐associated neurodevelopmental disorder von Waqas, Ahmed, Liaqat, Romana, Shaheen, Sidrah, Khan, Ali Zaman, Mujahid, Habib, Alaa Hamed, Binothman, Najat, Aljadani, Majidah, Zehri, Zamrud, Shaheen, Shabnam, Alkathiri, Afnan, Naz, Rubina, Umair, Muhammad, Abbas, Safdar


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  6. 6
    Clinical and genetic investigation of 14 families with various forms of short stature syndromes

    Clinical and genetic investigation of 14 families with various forms of short stature syndromes von Khan, Fati Ullah, Khan, Hammal, Ullah, Kifayat, Nawaz, Shoaib, Abdullah, Khan, Muhammad Javed, Ahmed, Sohail, Ilyas, Muhammad, Ali, Amjad, Ullah, Imran, Sohail, Aamir, Hussain, Shabir, Ahmad, Farooq, Faisal, Sufyan, Raza, Hayat, Amir, Hanif, Tooba, Bibi, Fatima, Hayat, Maria, Ullah, Rehmat, Khan, Inam Ullah, Ali, Raja Hussain, Hasni, Muhammad Sharif, Ali, Hamid, Bilal, Muhammad, Peralta, Susana, Buchert, Rebecca, Zehri, Zamrud, Hassan, Gul, Liaqat, Khurrum, Zahid, Muhammad, Shah, Khadim, Mikitie, Outi, Haack, Tobias B., Ji, Weizhen, Lakhani, Saquib A., Ansar, Muhammad, Ahmad, Wasim

    Veröffentlicht in Clinical genetics

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