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FGF23 and its role in X-linked hypophosphatemia-related morbidity

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DOI
10.1186/s13023-019-1014-8
Beck-Nielsen, Signe Sparre; Mughal, Zulf; Haffner, Dieter; Nilsson, Ola; Levtchenko, Elena; Ariceta,...
Orphanet journal of rare diseases2019

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

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DOI
10.1016/j.xhgg.2023.100200
de Boer, Elke; Marcelis, Carlo; Neveling, Kornelia; van Beusekom, Ellen; Hoischen, Alexander; Klein,...
Human genetics and genomics advances2023

X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant

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DOI
10.1016/j.ejmg.2020.104040
Kraatari, M.; Tuominen, H.; Tuupanen, S.; Haapaniemi, T.; Moilanen, J.; Rahikkala, E.
European journal of medical genetics2020

Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man

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DOI
10.1002/ajmg.a.62213
Arvio, Maria; Lähdetie, Jaana
American journal of medical genetics. Part A2021

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

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DOI
10.1007/s00401-021-02319-x
Johari, Mridul; Sarparanta, Jaakko; Vihola, Anna; Jonson, Per Harald; Savarese, Marco; Jokela, Manu;...
Acta neuropathologica2021

Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency

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DOI
10.1016/j.jaci.2021.10.037
Yang, Linlin; Booth, Claire; Speckmann, Carsten; Seidel, Markus G.; Worth, Austen J. J.; Kindle, Ger...
Journal of allergy and clinical immunology : in practice2022

The International X-Linked Hypophosphatemia (XLH) Registry:first interim analysis of baseline demographic, genetic and clinical data

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DOI
10.1186/s13023-023-02882-4
Ariceta, Gema; Beck-Nielsen, Signe Sparre; Boot, Annemieke M.; Brandi, Maria Luisa; Briot, Karine; C...
Orphanet journal of rare diseases2023

Sushi repeat-containing protein X-Linked 2 - a novel phylogenetically conserved hypothalamo-pituitary protein

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DOI
10.1002/cne.24449
Anwer, Mehwish; Bolkvadze, Tamuna; Ndode-Ekane, Xavier Ekolle; Puhakka, Noora; Rauramaa, Tuomas; Lei...
Journal of comparative neurology2018

The international X-linked hypophosphataemia (XLH) registry (NCT03193476):rationale for and description of an international, observational study

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DOI
10.1186/s13023-020-01434-4
Padidela, Raja; Nilsson, Ola; Mäkitie, Outi; Beck-Nielsen, Signe; Ariceta, Gema; Schnabel, Dirk; Bra...
Orphanet journal of rare diseases2020

Overexpression of the X-Linked Inhibitor of Apoptosis Protein (XIAP) in Neurons Improves Cell Survival and the Functional Outcome after Traumatic Spinal Cord Injury

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DOI
10.3390/ijms24032791
Reigada, David; Maza, Rodrigo M.; Muñoz-Galdeano, Teresa; Barreda-Manso, María Asunción; Soto, Altea...
International Journal of Molecular Sciences2023

FGF23 and its role in X-linked hypophosphatemia-related morbidity

Vertaisarvioitu
Avoin saatavuus
DOI
10.1186/s13023-019-1014-8
2019

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.xhgg.2023.100200
2023

X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant

Vertaisarvioitu
DOI
10.1016/j.ejmg.2020.104040
2020

Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man

Avoin saatavuus
DOI
10.1002/ajmg.a.62213
2021

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Vertaisarvioitu
Avoin saatavuus
DOI
10.1007/s00401-021-02319-x
2021

Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency

Vertaisarvioitu
Avoin saatavuus
DOI
10.1016/j.jaci.2021.10.037
2022

The International X-Linked Hypophosphatemia (XLH) Registry:first interim analysis of baseline demographic, genetic and clinical data

Vertaisarvioitu
Avoin saatavuus
DOI
10.1186/s13023-023-02882-4
2023

Sushi repeat-containing protein X-Linked 2 - a novel phylogenetically conserved hypothalamo-pituitary protein

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/cne.24449
2018

The international X-linked hypophosphataemia (XLH) registry (NCT03193476):rationale for and description of an international, observational study

Vertaisarvioitu
Avoin saatavuus
DOI
10.1186/s13023-020-01434-4
2020

Overexpression of the X-Linked Inhibitor of Apoptosis Protein (XIAP) in Neurons Improves Cell Survival and the Functional Outcome after Traumatic Spinal Cord Injury

Vertaisarvioitu
Avoin saatavuus
DOI
10.3390/ijms24032791
2023