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11
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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12
Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease
Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease
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Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease

Dasouki, Majed ; Alaiya, Ayodeele ; ElAmin, Tanziel ; Shinwari, Zakia ; Monies, Dorota ; Abouelhoda, Mohamed ; Jabaan, Amjad ; Almourfi, Feras ; Rahbeeni, Zuhair ; Alsohaibani, Fahad ; Almohareb, Fahad ; Al-Zahrani, Hazzaa ; Guzmán Vega, Francisco J. ; Arold, Stefan T. ; Aljurf, Mahmoud ; Ahmed, Syed Osman

iScience, 2021-03, Vol.24 (3), p.102214-102214, Article 102214 [Periódico revisado por pares]

United States: Elsevier Inc

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13
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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14
Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
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Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

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

Human genomics, 2017-11, Vol.11 (1), p.28-28, Article 28 [Periódico revisado por pares]

England: BioMed Central

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15
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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16
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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17
Identification of a novel genetic locus underlying tremor and dystonia
Identification of a novel genetic locus underlying tremor and dystonia
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Identification of a novel genetic locus underlying tremor and dystonia

Monies, Dorota ; Abou Al-Shaar, Hussam ; 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

Human genomics, 2017-11, Vol.11 (1), p.25-25, Article 25 [Periódico revisado por pares]

England: BioMed Central

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18
Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism
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Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

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

Human genomics, 2017-12, Vol.11 (1), p.33-33, Article 33 [Periódico revisado por pares]

England: BioMed Central

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19
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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20
Homogeneity and distinctiveness of Polish paternal lineages revealed by y chromosome microsatellite haplotype analysis
Homogeneity and distinctiveness of Polish paternal lineages revealed by y chromosome microsatellite haplotype analysis
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Homogeneity and distinctiveness of Polish paternal lineages revealed by y chromosome microsatellite haplotype analysis

PLOSKI, Rafal ; WOZNIAK, Marcin ; LESSIG, Rüdiger ; JOBLING, Mark A ; ROEWER, Lutz ; KAYSER, Manfred ; PAWLOWSKI, Ryszard ; MONIES, Dorota Marta ; BRANICKI, Wojciech ; KUPIEC, Tomasz ; KLOOSTERMAN, Ate ; DOBOSZ, Tadeusz ; BOSCH, Elena ; NOWAK, Magdalena

Human genetics, 2002-06, Vol.110 (6), p.592-600 [Periódico revisado por pares]

Heidelberg: Springer

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