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Refinado por: assunto: Pedigree remover
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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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2
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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3
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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4
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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5
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
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Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Alazami, Anas M. ; Patel, Nisha ; Shamseldin, Hanan E. ; Anazi, Shamsa ; Al-Dosari, Mohammed S. ; Alzahrani, Fatema ; Hijazi, Hadia ; Alshammari, Muneera ; Aldahmesh, Mohammed A. ; Salih, Mustafa A. ; Faqeih, Eissa ; Alhashem, Amal ; Bashiri, Fahad A. ; Al-Owain, Mohammed ; Kentab, Amal Y. ; Sogaty, Sameera ; Al Tala, Saeed ; Temsah, Mohamad-Hani ; Tulbah, Maha ; Aljelaify, Rasha F. ; Alshahwan, Saad A. ; Seidahmed, Mohammed Zain ; Alhadid, Adnan A. ; Aldhalaan, Hesham ; AlQallaf, Fatema ; Kurdi, Wesam ; Alfadhel, Majid ; Babay, Zainab ; Alsogheer, Mohammad ; Kaya, Namik ; Al-Hassnan, Zuhair N. ; Abdel-Salam, Ghada M.H. ; Al-Sannaa, Nouriya ; Al Mutairi, Fuad ; El Khashab, Heba Y. ; Bohlega, Saeed ; Jia, Xiaofei ; Nguyen, Henry C. ; Hammami, Rakad ; Adly, Nouran ; Mohamed, Jawahir Y. ; Abdulwahab, Firdous ; Ibrahim, Niema ; Naim, Ewa A. ; Al-Younes, Banan ; Meyer, Brian F. ; Hashem, Mais ; Shaheen, Ranad ; Xiong, Yong ; Abouelhoda, Mohamed ; Aldeeri, Abdulrahman A. ; Monies, Dorota M. ; Alkuraya, Fowzan S.

Cell reports (Cambridge), 2015-01, Vol.10 (2), p.148-161 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis
Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis
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Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis

Wakil, Salma M. ; Monies, Dorota M. ; Abouelhoda, Mohamed ; Al‐Tassan, Nada ; Al‐Dusery, Haya ; Naim, Ewa A. ; Al‐Younes, Banan ; Shinwari, Jameela ; Al‐Mohanna, Futwan A. ; Meyer, Brian F. ; Al‐Mayouf, Sulaiman

Arthritis & rheumatology (Hoboken, N.J.), 2015-01, Vol.67 (1), p.288-295 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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7
Expanding the genetic heterogeneity of intellectual disability
Expanding the genetic heterogeneity of intellectual disability
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Expanding the genetic heterogeneity of intellectual disability

Anazi, Shams ; Maddirevula, Sateesh ; Salpietro, Vincenzo ; Asi, Yasmine T. ; Alsahli, Saud ; Alhashem, Amal ; Shamseldin, Hanan E. ; AlZahrani, Fatema ; Patel, Nisha ; Ibrahim, Niema ; Abdulwahab, Firdous M. ; Hashem, Mais ; Alhashmi, Nadia ; Al Murshedi, Fathiya ; Al Kindy, Adila ; Alshaer, Ahmad ; Rumayyan, Ahmed ; Al Tala, Saeed ; Kurdi, Wesam ; Alsaman, Abdulaziz ; Alasmari, Ali ; Banu, Selina ; Sultan, Tipu ; Saleh, Mohammed M. ; Alkuraya, Hisham ; Salih, Mustafa A. ; Aldhalaan, Hesham ; Ben-Omran, Tawfeg ; Al Musafri, Fatima ; Ali, Rehab ; Suleiman, Jehan ; Tabarki, Brahim ; El-Hattab, Ayman W. ; Bupp, Caleb ; Alfadhel, Majid ; Al Tassan, Nada ; Monies, Dorota ; Arold, Stefan T. ; Abouelhoda, Mohamed ; Lashley, Tammaryn ; Houlden, Henry ; Faqeih, Eissa ; Alkuraya, Fowzan S.

Human genetics, 2017-11, Vol.136 (11-12), p.1419-1429 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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8
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development
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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

Nahorski, Michael S ; Maddirevula, Sateesh ; Ishimura, Ryosuke ; Alsahli, Saud ; Brady, Angela F ; Begemann, Anaïs ; Mizushima, Tsunehiro ; Guzmán-Vega, Francisco J ; Obata, Miki ; Ichimura, Yoshinobu ; Alsaif, Hessa S ; Anazi, Shams ; Ibrahim, Niema ; Abdulwahab, Firdous ; Hashem, Mais ; Monies, Dorota ; Abouelhoda, Mohamed ; Meyer, Brian F ; Alfadhel, Majid ; Eyaid, Wafa ; Zweier, Markus ; Steindl, Katharina ; Rauch, Anita ; Arold, Stefan T ; Woods, C Geoffrey ; Komatsu, Masaaki ; Alkuraya, Fowzan S

Brain (London, England : 1878), 2018-07, Vol.141 (7), p.1934-1945 [Periódico revisado por pares]

England: Oxford University Press

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9
Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission
Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission
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Whole exome sequencing in ADHD trios from single and multi-incident families implicates new candidate genes and highlights polygenic transmission

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

European journal of human genetics : EJHG, 2020-08, Vol.28 (8), p.1098-1110 [Periódico revisado por pares]

England: Nature Publishing Group

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10
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
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KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

Sanders, Anna A W M ; de Vrieze, Erik ; Alazami, Anas M ; Alzahrani, Fatema ; Malarkey, Erik B ; Sorusch, Nasrin ; Tebbe, Lars ; Kuhns, Stefanie ; van Dam, Teunis J P ; Alhashem, Amal ; Tabarki, Brahim ; Lu, Qianhao ; Lambacher, Nils J ; Kennedy, Julie E ; Bowie, Rachel V ; Hetterschijt, Lisette ; van Beersum, Sylvia ; van Reeuwijk, Jeroen ; Boldt, Karsten ; Kremer, Hannie ; Kesterson, Robert A ; Monies, Dorota ; Abouelhoda, Mohamed ; Roepman, Ronald ; Huynen, Martijn H ; Ueffing, Marius ; Russell, Rob B ; Wolfrum, Uwe ; Yoder, Bradley K ; van Wijk, Erwin ; Alkuraya, Fowzan S ; Blacque, Oliver E

Genome Biology, 2015-12, Vol.16 (1), p.293-293, Article 293 [Periódico revisado por pares]

England: BioMed Central

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