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Refinado por: assunto: Mutation remover
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1
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans
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Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans

Shaheen, Ranad ; Alsahli, Saud ; Ewida, Nour ; Alzahrani, Fatema ; Shamseldin, Hanan E. ; Patel, Nisha ; Al Qahtani, Awad ; Alhebbi, Homoud ; Alhashem, Amal ; Al‐Sheddi, Tarfa ; Alomar, Rana ; Alobeid, Eman ; Abouelhoda, Mohamed ; Monies, Dorota ; Al‐Hussaini, Abdulrahman ; Alzouman, Muneerah A. ; Shagrani, Mohammad ; Faqeih, Eissa ; Alkuraya, Fowzan S.

Hepatology (Baltimore, Md.), 2020-06, Vol.71 (6), p.2067-2079 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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2
Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification
Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification
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Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification

Monies, Dorota ; Vågbø, Cathrine Broberg ; Al-Owain, Mohammad ; Alhomaidi, Suzan ; Alkuraya, Fowzan S.

American journal of human genetics, 2019-06, Vol.104 (6), p.1202-1209 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency
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Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

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

Frontiers in immunology, 2018-02, Vol.9, p.203-203 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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4
Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders
Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders
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Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders

Bohlega, Saeed A. ; Abou-Al-Shaar, Hussam ; AlDakheel, Amaal ; Alajlan, Huda ; Bohlega, Balsam S. ; Meyer, Brian F. ; Monies, Dorota ; Cupler, Edward J. ; Al-Saif, Amr M.

Parkinsonism & related disorders, 2019-07, Vol.64, p.145-149 [Periódico revisado por pares]

England: Elsevier Ltd

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5
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining
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Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining

Abouelhoda, Mohamed ; Mohty, Dania ; Alayary, Islam ; Meyer, Brian F ; Arold, Stefan T ; Fadel, Bahaa M ; Monies, Dorota

Human genomics, 2021-08, Vol.15 (1), p.52-52, Article 52 [Periódico revisado por pares]

England: BioMed Central

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6
Molecular classification of blood and bleeding disorder genes
Molecular classification of blood and bleeding disorder genes
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Molecular classification of blood and bleeding disorder genes

Baz, Batoul ; Abouelhoda, Mohamed ; Owaidah, Tarek ; Dasouki, Majed ; Monies, Dorota ; Al Tassan, Nada

Npj genomic medicine, 2021-07, Vol.6 (1), p.62-62, Article 62 [Periódico revisado por pares]

London: Nature Publishing Group

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7
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families
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Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families

Bohlega, Saeed A ; Al-Mubarak, Bashayer R ; Alyemni, Eman A ; Abouelhoda, Mohamed ; Monies, Dorota ; Mustafa, Abeer E ; Khalil, Dania S ; Al Haibi, Sara ; Abou Al-Shaar, Hussam ; Faquih, Tariq ; El-Kalioby, Mohamed ; Tahir, Asma I ; Al Tassan, Nada A

BMC research notes, 2016-06, Vol.9 (1), p.295-295, Article 295 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling
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Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

Kor, Yılmaz ; Zou, Minjing ; Al-Rijjal, Roua A ; Monies, Dorota ; Meyer, Brian F ; Shi, Yufei

BMC medical genetics, 2018-07, Vol.19 (1), p.115-115, Article 115 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases
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Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases

Al-Mousa, Hamoud, MD ; Abouelhoda, Mohamed, PhD ; Monies, Dorota M., PhD ; Al-Tassan, Nada, PhD ; Al-Ghonaium, Abdulaziz, MD ; Al-Saud, Bandar, MD ; Al-Dhekri, Hasan, MD ; Arnaout, Rand, MD ; Al-Muhsen, Saleh, MD ; Ades, Nazema, BN ; Elshorbagi, Sahar, MD ; Al Gazlan, Sulaiman, MD ; Sheikh, Farrukh, MD ; Dasouki, Majed, MD ; El-Baik, Lina, BSc ; Elamin, Tanzeil, MS ; Jaber, Amal, BSc ; Kheir, Omnia, BPharm ; El-Kalioby, Mohamed, MS ; Subhani, Shazia, MS ; Al Idrissi, Eman, MD ; Al-Zahrani, Mofareh, MD ; Alhelale, Maryam, MD ; Alnader, Noukha, BSc ; Al-Otaibi, Afaf, BSc ; Kattan, Rana, BSc ; Al Abdelrahman, Khalid, BSc ; Al Breacan, Muna M., BSc ; Bin Humaid, Faisal S., BSc ; Wakil, Salma Majid, PhD ; Alzayer, Fadi, BSc ; Al-Dusery, Haya, BSc ; Faquih, Tariq, MS ; Al-Hissi, Safa, BSc ; Meyer, Brian F., PhD ; Hawwari, Abbas, PhD

Journal of allergy and clinical immunology, 2016-06, Vol.137 (6), p.1780-1787 [Periódico revisado por pares]

United States: Elsevier Inc

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10
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Monies, Dorota ; Abouelhoda, Mohamed ; AlSayed, Moeenaldeen ; Alhassnan, Zuhair ; Alotaibi, Maha ; Al-Owain, Mohammed ; Shah, Ayaz ; Rahbeeni, Zuhair ; Al-Muhaizea, Mohammad A. ; Alzaidan, Hamad I. ; Cupler, Edward ; Bohlega, Saeed ; Faqeih, Eissa ; Faden, Maha ; Alyounes, Banan ; Jaroudi, Dyala ; Goljan, Ewa ; Elbardisy, Hadeel ; Akilan, Asma ; Albar, Renad ; Aldhalaan, Hesham ; Gulab, Shamshad ; Chedrawi, Aziza ; Al Saud, Bandar K ; Kurdi, Wesam ; Makhseed, Nawal ; Alqasim, Tahani ; El Khashab, Heba Y. ; Al-Mousa, Hamoud ; Kanaan, Imaduddin ; Algoufi, Talal ; Alsaleem, Khalid ; Basha, Talal A. ; Al-Murshedi, Fathiya ; Al-Kindy, Adila ; Al-Hajjar, Sami ; Alyamani, Suad ; Aldhekri, Hasan ; Al-Mehaidib, Ali ; Arnaout, Rand ; Dabbagh, Omar ; Shagrani, Mohammad ; Broering, Dieter ; Alqassmi, Amal ; Almugbel, Maisoon ; AlQuaiz, Mohammed ; Alsaman, Abdulaziz ; Al-Thihli, Khalid ; Sulaiman, Raashda A. ; Al-Dekhail, Wajeeh ; Alsaegh, Abeer ; Bashiri, Fahad A. ; Qari, Alya ; Alhomadi, Suzan ; Alkuraya, Hisham ; Alsebayel, Mohammed ; Hamad, Muddathir H ; Szonyi, Laszlo ; Abaalkhail, Faisal ; Al-Mayouf, Sulaiman M. ; Almojalli, Hamad ; Alqadi, Khalid S. ; Elsiesy, Hussien ; Shuaib, Taghreed M. ; Seidahmed, Mohammed Zain ; Abosoudah, Ibraheem ; Akleh, Hana ; AlGhonaium, Abdulaziz ; Alkharfy, Turki M. ; Al Mutairi, Fuad ; Eyaid, Wafa ; Alshanbary, Abdullah ; Sheikh, Farrukh R. ; Alsohaibani, Fahad I. ; Al Tala, Saeed ; Balkhy, Soher ; Bassiouni, Randa ; Alenizi, Ahmed S. ; Hussein, Maged H. ; Hassan, Saeed ; Khalil, Mohamed ; Tabarki, Brahim ; Alshahwan, Saad ; Oshi, Amira ; Sabr, Yasser ; Alsaadoun, Saad ; Salih, Mustafa A. ; Mohamed, Sarar ; Sultana, Habiba ; Tamim, Abdullah ; El-Haj, Moayad ; Alshahrani, Saif ; Bubshait, Dalal K. ; Alfadhel, Majid ; Faquih, Tariq ; El-Kalioby, Mohamed ; Shah, Zeeshan ; Moghrabi, Nabil ; Meyer, Brian F. ; Alkuraya, Fowzan S.

Human genetics, 2017-08, Vol.136 (8), p.921-939 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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