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Newly diagnosed children and adolescents with haemophilia A and B in Germany – the GEPHARD study of the 'Standing Commission Paediatrics of the Society for Thrombosis and Haemostasis Research. (German)

Autor: Bidlingmaier, C, Türknetz, M, Escuriola Ettingshausen, C, Kentouch, K, Olivieri, M, Eberl, W, Zieger, B, Kurnik, K, Königs, C

Publikováno v: Hämostaseologie; 2021 Supplement1, Vol. 41, pS50-S50, 1p

AUTHOR INDEX.

Publikováno v: Haemophilia. Feb2022 Supplement S1, Vol. 28, p127-134. 8p.

Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.

Autor: Nerakh G; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Vineeth VS; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Tallapaka K; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Nair L; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India., Aggarwal S; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jul; Vol. 188 (7), pp. 2139-2146. Date of Electronic Publication: 2022 Mar 17.