Specific and complete human genome amplification with improved yield achieved by phi29 DNA polymerase and a novel primer at elevated temperature

por Alsmadi, Osama, Alkayal, Fadi, Monies, Dorota, Meyer, Brian F
Publicado 2009

Molecular classification of blood and bleeding disorder genes

por Baz, Batoul, Abouelhoda, Mohamed, Owaidah, Tarek, Dasouki, Majed, Monies, Dorota, Al Tassan, Nada
Publicado 2021

Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

por Kor, Yılmaz, Zou, Minjing, Al-Rijjal, Roua A., Monies, Dorota, Meyer, Brian F., Shi, Yufei
Publicado 2018

Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining

por Abouelhoda, Mohamed, Mohty, Dania, Alayary, Islam, Meyer, Brian F., Arold, Stefan T., Fadel, Bahaa M., Monies, Dorota
Publicado 2021

Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population

por Goljan, Ewa, Abouelhoda, Mohammed, ElKalioby, Mohamed M., Jabaan, Amjad, Alghithi, Nada, Meyer, Brian F., Monies, Dorota
Publicado 2022

SARS-CoV-2–Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency Disease

por Al-Saud, Bandar, Hazzazi, Khaled M., Mohammed, Reem, Al Najjar, Alaa, Al Hazmi, Tariq, Monies, Dorota, Alkuraya, Fowzan S.
Publicado 2021

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

por Winczewska-Wiktor, Anna, Badura-Stronka, Magdalena, Monies-Nowicka, Anna, Nowicki, Michal Maciej, Steinborn, Barbara, Latos-Bieleńska, Anna, Monies, Dorota
Publicado 2016

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

por Alsemari, Abdulaziz, Al-Younes, Banan, Goljan, Ewa, Jaroudi, Dyala, BinHumaid, Faisal, Meyer, Brian F., Arold, Stefan T., Monies, Dorota
Publicado 2017

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

por Alsemari, Abdulaziz, Al-Younes, Banan, Goljan, Ewa, Jaroudi, Dyala, BinHumaid, Faisal, Meyer, Brian F., Arold, Stefan T., Monies, Dorota
Publicado 2017

β1 Integrin is essential for fascin‐mediated breast cancer stem cell function and disease progression

por Barnawi, Rayanah, Al‐Khaldi, Samiyah, Colak, Dilek, Tulbah, Asma, Al‐Tweigeri, Taher, Fallatah, Mohannad, Monies, Dorota, Ghebeh, Hazem, Al‐Alwan, Monther
Publicado 2019

High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried...

por Al-Mousa, Hamoud, Al-Dakheel, Ghadah, Jabr, Amal, Elbadaoui, Fahd, Abouelhoda, Mohamed, Baig, Mansoor, Monies, Dorota, Meyer, Brian, Hawwari, Abbas, Dasouki, Majed
Publicado 2018

LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation

por BOHLEGA, SAEED A., ALFAWAZ, SARAH, ABOU-AL-SHAAR, HUSSAM, AL-HINDI, HINDI N., MURAD, HATEM N., BOHLEGA, MOHAMED S., MEYER, BRIAN F., MONIES, DOROTA
Publicado 2018

Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia

por Alharbi, Norah, Matar, Rawan, Cupler, Edward, Al-Hindi, Hindi, Murad, Hatem, Alhomud, Iftteah, Monies, Dorota, Alshehri, Ali, Alyahya, Mossaed, Meyer, Brian, Bohlega, Saeed
Publicado 2022

Higher PD-L1 Immunohistochemical Detection Signal in Frozen Compared to Matched Paraffin-Embedded Formalin-Fixed Tissues

por Ghebeh, Hazem, Mansour, Fatmah A., Colak, Dilek, Alfuraydi, Akram A., Al-Thubiti, Amal A., Monies, Dorota, Al-Alwan, Monther, Al-Tweigeri, Taher, Tulbah, Asma
Publicado 2021

New or vanishing frontiers: LACC1-associated juvenile arthritis

por Al-Mayouf, Sulaiman M., Yateem, Mada, Al-Dusery, Haya, Monies, Dorota, Wakil, Salma, AlShiakh, Manal, AlEnazi, Abdullatif, Aladaileh, Boshra, Alzyoud, Raed, Meyer, Brian
Publicado 2021

Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene

por Wakil, Salma M., Monies, Dorota, Hagos, Samya, Al-Ajlan, Fahad, Finsterer, Josef, Al Qahtani, Aisha, Ramzan, Khushnooda, Al Humaidy, Rawan, Al-Muhaizea, Mohamed A., Meyer, Brian, Bohlega, Saeed A.
Publicado 2018

Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission

por Al-Mubarak, Bashayer R., Omar, Aisha, Baz, Batoul, Al-Abdulaziz, Basma, Magrashi, Amna I., Al-Yemni, Eman, Jabaan, Amjad, Monies, Dorota, Abouelhoda, Mohamed, Abebe, Dejene, Ghaziuddin, Mohammad, Al-Tassan, Nada A.
Publicado 2020

Identification of a novel genetic locus underlying tremor and dystonia

por Monies, Dorota, Al-Shaar, Hussam Abou, Goljan, Ewa A., Al-Younes, Banan, Al-Breacan, Muna Monther Abdullah, Al-Saif, Maher Mohammed, Wakil, Salma M., Meyer, Brian F., Khabar, Khalid S. A., Bohlega, Saeed
Publicado 2017

The clinical utility of rapid exome sequencing in a consanguineous population

por Monies, Dorota, Goljan, Ewa, Assoum, Mirna, Albreacan, Muna, Binhumaid, Faisal, Subhani, Shazia, Boureggah, Abdulmlik, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Temsah, Mohamad H., Alsohime, Fahad, Kelaher, James, Abouelhoda, Mohamed, Meyer, Brian F., Alkuraya, Fowzan S.
Publicado 2023

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

por Alazami, Anas M., Al-Helale, Maryam, Alhissi, Safa, Al-Saud, Bandar, Alajlan, Huda, Monies, Dorota, Shah, Zeeshan, Abouelhoda, Mohamed, Arnaout, Rand, Al-Dhekri, Hasan, Al-Numair, Nouf S., Ghebeh, Hazem, Sheikh, Farrukh, Al-Mousa, Hamoud
Publicado 2018