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Fredwall, Svein [Author]; Allum, Yana [Author]; AlSayed, Moeenaldeen [Author]; Alves, Inês [Author]; Ben-Omran, Tawfeg [Author]; Boero, Silvio [Author]; Cormier-Daire, Valerie [Author]; Guillen-Navarro, Encarna [Author]; Irving, Melita [Author]; Lampe, Christian [Author]; Maghnie, Mohamad [Author]; Mohnike, Klaus [Author]; Mortier, Geert [Author]; Sousa, Sérgio B. [Author]; Wright, Michael [Author]

Optimising care and follow-up of adults with achondroplasia

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2022

Published in: Orphanet journal of rare diseases ; 17(2022), Artikel-ID 318
Cormier-Daire, Valerie [Author]; AlSayed, Moeenaldeen [Author]; Alves, Inês [Author]; Bengoa, Joana [Author]; Ben-Omran, Tawfeg [Author]; Boero, Silvio [Author]; Fredwall, Svein [Author]; Garel, Catherine [Author]; Guillen-Navarro, Encarna [Author]; Irving, Melita [Author]; Lampe, Christian [Author]; Maghnie, Mohamad [Author]; Mortier, Geert [Author]; Sousa, Sérgio B. [Author]; Mohnike, Klaus [Author]

Optimising the diagnosis and referral of achondroplasia in Europe : European Achondroplasia Forum best practice recommendations

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2022

Published in: Orphanet journal of rare diseases ; 17(2022), Artikel-ID 293
Cormier-Daire, Valerie [Author]; AlSayed, Moeenaldeen [Author]; Ben-Omran, Tawfeg [Author]; Sousa, Sérgio Bernardo de [Author]; Boero, Silvio [Author]; Fredwall, Svein O. [Author]; Guillen-Navarro, Encarna [Author]; Irving, Melita [Author]; Lampe, Christian [Author]; Maghnie, Mohamad [Author]; Mortier, Geert [Author]; Peijin, Zagorka [Author]; Mohnike, Klaus [Author]

The first European consensus on principles of management for achondroplasia

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2021

Published in: Orphanet journal of rare diseases ; 16(2021), Artikel-ID 333
Irving, Melita [Author]; AlSayed, Moeenaldeen [Author]; Arundel, Paul [Author]; Baujat, Geneviève [Author]; Ben-Omran, Tawfeg [Author]; Boero, Silvio [Author]; Cormier-Daire, Valérie [Author]; Fredwall, Svein [Author]; Guillen-Navarro, Encarna [Author]; Hoyer-Kuhn, Heike-Katharina [Author]; Kunkel, Philip Oskar Sean [Author]; Lampe, Christian Gerhard [Author]; Maghnie, Mohamad [Author]; Mohnike, Klaus [Author]; Mortier, Geert [Author]; Sousa, Sérgio B. [Author]

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

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2023

Published in: Orphanet journal of rare diseases ; 18(2023), Artikel-ID 219, Seite 1-8
Alanay, Yasemin [Author]; Mohnike, Klaus [Author]; Nilsson, Ola [Author]; Alves, Inês [Author]; AlSayed, Moeenaldeen [Author]; Appelman-Dijkstra, Natasha M. [Author]; Baujat, Genevieve [Author]; Ben-Omran, Tawfeg [Author]; Breyer, Sandra Rafaela [Author]; Cormier-Daire, Valerie [Author]; Gregersen, Pernille Axél [Author]; Guillén-Navarro, Encarna [Author]; Högler, Wolfgang [Author]; Maghnie, Mohamad [Author]; Mukherjee, Swati [Author]; Cohen, Shelda [Author]; Pimenta, Jeanne [Author]; Selicorni, Angelo [Author]; Semler, Jörg Oliver [Author]; Sigaudy, Sabine [Author]; Popkov, Dmitry [Author]; Sabir, Ian [Author]; Noval, Susana [Author]; Sessa, Marco [Author];

Real-world evidence in achondroplasia : considerations for a standardized data set

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2023

Published in: Orphanet journal of rare diseases ; 18(2023), Artikel-ID 166
Al Masseri, Zainab; AlSayed, Moeenaldeen

Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants

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Elsevier BV, 2022

Published in: Molecular Genetics and Metabolism Reports, 31 (2022), Seite 100864
Nicolas-Jilwan, Manal; AlSayed, Moeenaldeen

Mucopolysaccharidoses: overview of neuroimaging manifestations

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Springer Science and Business Media LLC, 2018

Published in: Pediatric Radiology, 48 (2018) 10, Seite 1503-1520
Bawazeer, Shahad; AlSayed, Moeenaldeen; Kurdi, Wesam; Balobaid, Ameera

Knowledge and attitudes regarding non‐invasive prenatal testing among women in Saudi Arabia

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Wiley, 2021

Published in: Prenatal Diagnosis, 41 (2021) 10, Seite 1343-1350
Imtiaz, Faiqa; Allam, Rabab; Ramzan, Khushnooda; Al-Sayed, Moeenaldeen

Variation in DNAH1 may contribute to primary ciliary dyskinesia

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Springer Science and Business Media LLC, 2015

Published in: BMC Medical Genetics, 16 (2015) 1
Sharfa, Shirin; Sunbul, Rawda; Masseri, Zainab; AlSayed, Moeenaldeen; Al-Hassnan, Zuhair

A case report of a first pregnant woman with late-onset multiple acyl-CoA dehydrogenase deficiency in Saudi Arabia

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Discover STM Publishing Ltd., 2022

Published in: Journal of Biochemical and Clinical Genetics (2022), Seite 20-24
Balobaid, Ameera; Imtiaz, Faiqa; Ramzan, Khushnooda; Afzal, Sibtain; AlSayed, Moeenaldeen

Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia

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Mary Ann Liebert Inc, 2023

Published in: Genetic Testing and Molecular Biomarkers, 27 (2023) 5, Seite 142-148
Nicolas-Jilwan, Manal; Medlej, Rita; Sulaiman, Raashda A; AlSayed, Moeenaldeen

The neuroimaging findings of monocarboxylate transporter 1 deficiency

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Springer Science and Business Media LLC, 2020

Published in: Neuroradiology, 62 (2020) 7, Seite 891-894
Qari, Alya A.; Balobaid, Ameera S.; Rawashdeh, Rifaat R.; Al‐Sayed, Moeenaldeen D.

The Development of Genetic Counseling Services and Training Program in Saudi Arabia

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Wiley, 2013

Published in: Journal of Genetic Counseling, 22 (2013) 6, Seite 835-838
Alsmadi, Osama; Alkayal, Fadi; Al-Sayed, MoeenAldeen; Rashed, Mohamed S; Imtiaz, Faiqa; Meyer, Brian F

LCGreen I–Based Real-Time PCR Assays for Detecting Common ASL and HMGCL Variants

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Oxford University Press (OUP), 2006

Published in: Clinical Chemistry, 52 (2006) 7, Seite 1439-1440
Al-Sayed, Moeenaldeen; Imtiaz, Faiqa; Alsmadi, Osama A; Rashed, Mohammed S; Meyer, Brian F

Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population

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Springer Science and Business Media LLC, 2006

Published in: BMC Medical Genetics, 7 (2006) 1
AlSayed, Moeenaldeen; Al-Jasmi, Fatma; Omran, Tawfeg; Al-Murshedi, Fathiya; Sunbul, Rawda; Al-Hashmi, Nadia; Al-Enazi, Talal

The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region

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Discover STM Publishing Ltd., 2023

Published in: Journal of Biochemical and Clinical Genetics (2023), Seite 41-56
AlSayed, Moeenaldeen; Arafa, Dia; Al-Khawajha, Huda; Afqi, Manal; Al-Sanna’a, Nouriya; Sunbul, Rawda; Faden, Maha

Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia

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Springer Science and Business Media LLC, 2024

Published in: Orphanet Journal of Rare Diseases, 19 (2024) 1
Alsmadi, Osama; Meyer, Brian F; Alkuraya, Fowzan; Wakil, Salma; Alkayal, Fadi; Al-Saud, Haya; Ramzan, Khushnooda; Al-Sayed, MoeenAldeen

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)

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Springer Science and Business Media LLC, 2009

Published in: European Journal of Human Genetics, 17 (2009) 1, Seite 14-21
Tomanin, Rosella; Karageorgos, Litsa; Zanetti, Alessandra; Al-Sayed, Moeenaldeen; Bailey, Mitch; Miller, Nicole; Sakuraba, Hitoshi; Hopwood, John J.

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in theARSBgene

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Hindawi Limited, 2018

Published in: Human Mutation, 39 (2018) 12, Seite 1788-1802
Sulaiman, Raashda Ainuddin; Shaheen, Marwan Yassin; Al-Zaidan, Hamad; Al-Hassnan, Zuhair; Al-Sayed, Moeenaldeen; Rahbeeni, Zuhair; Bakshi, Nasir Ahmed; Kaya, Namik; Aldosary, Mazhor; Al-Owain, Mohammed

Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy

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International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA), 2016

Published in: Intractable & Rare Diseases Research, 5 (2016) 3, Seite 227-230

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