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Refinado por: assunto: Child remover
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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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2
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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3
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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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
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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6
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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7
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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8
Expanding Phenotypic and Allelic Heterogeneity of Tricho‐Hepato‐Enteric Syndrome
Expanding Phenotypic and Allelic Heterogeneity of Tricho‐Hepato‐Enteric Syndrome
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Expanding Phenotypic and Allelic Heterogeneity of Tricho‐Hepato‐Enteric Syndrome

Monies, Dorota M. ; Rahbeeni, Zuhair ; Abouelhoda, Mohamed ; Naim, Ewa A. ; Al‐Younes, Banan ; Meyer, Brian F. ; Al‐Mehaidib, Ali

Journal of pediatric gastroenterology and nutrition, 2015-03, Vol.60 (3), p.352-356 [Periódico revisado por pares]

United States: by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology

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9
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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10
A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report
A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report
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A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

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

BMC neurology, 2016-03, Vol.16 (35), p.35-35, Article 35 [Periódico revisado por pares]

England: BioMed Central Ltd

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