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Annals of Neurology
|
February 22, 2002
News and comment
Judith Armstrong, Pilar Póo, Mercè Pineda, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|
June 9, 2023
Silvery hair and neurologic impairment in a 21-month-old boy
Lluís Rusiñol, Eulàlia Baselga, Ana Garcia-Garcia, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|
September 13, 2023
Silbergraues Haar und neurologische Symptome bei einem 21 Monate alten Jungen
Lluís Rusiñol, Eulàlia Baselga, Ana Garcia-Garcia, et al.
European Journal of Medical Genetics
|
October 1, 2020
IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association
Santiago Montolío-Marzo, Jaume Català-Mora, Álvaro Madrid-Aris, et al.
Pediatric Dermatology
|
June 6, 2025
Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene
Luis Fernando Sánchez-Espino, Marta Ivars, Asunción Vicente-López, et al.
BMC Pediatrics
|
October 7, 2014
Hypotonic male infant and MCT8 deficiency - a diagnosis to think about
Filipa Rodrigues, Joana Grenha, Carlos Ortez, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|
June 30, 2025
X-linked dominant chondrodysplasia punctata (CDPX2): A rare case of male mosaicism with atypical dermatological manifestations
Lluís Corbella-Bagot, Marta Ivars, Luisa Montenegro, et al.
Bioinformatics (Oxford, England)
|
March 16, 2026
Identification of autosomal and sex chromosome aneuploidies using next generation sequencing
Nidia Barco-Armengol, Dèlia Yubero, Clara Xiol, et al.
Expert Review of Molecular Diagnostics
|
July 7, 2015
Molecular diagnosis of coenzyme Q10 deficiency
Delia Yubero, Raquel Montero, Judith Armstrong, et al.
Journal of the Neurological Sciences
|
November 26, 2008
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?
Josep Gamez, Judith Armstrong, Alexey Shatunov, et al.
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of 9
Search research articles
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Showing results (11-20 of 86) with videos related to
Sort By:
Page
of 9
Annals of Neurology
|
February 22, 2002
News and comment
Judith Armstrong, Pilar Póo, Mercè Pineda, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|
June 9, 2023
Silvery hair and neurologic impairment in a 21-month-old boy
Lluís Rusiñol, Eulàlia Baselga, Ana Garcia-Garcia, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|
September 13, 2023
Silbergraues Haar und neurologische Symptome bei einem 21 Monate alten Jungen
Lluís Rusiñol, Eulàlia Baselga, Ana Garcia-Garcia, et al.
European Journal of Medical Genetics
|
October 1, 2020
IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association
Santiago Montolío-Marzo, Jaume Català-Mora, Álvaro Madrid-Aris, et al.
Pediatric Dermatology
|
June 6, 2025
Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene
Luis Fernando Sánchez-Espino, Marta Ivars, Asunción Vicente-López, et al.
BMC Pediatrics
|
October 7, 2014
Hypotonic male infant and MCT8 deficiency - a diagnosis to think about
Filipa Rodrigues, Joana Grenha, Carlos Ortez, et al.
Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
|
June 30, 2025
X-linked dominant chondrodysplasia punctata (CDPX2): A rare case of male mosaicism with atypical dermatological manifestations
Lluís Corbella-Bagot, Marta Ivars, Luisa Montenegro, et al.
Bioinformatics (Oxford, England)
|
March 16, 2026
Identification of autosomal and sex chromosome aneuploidies using next generation sequencing
Nidia Barco-Armengol, Dèlia Yubero, Clara Xiol, et al.
Expert Review of Molecular Diagnostics
|
July 7, 2015
Molecular diagnosis of coenzyme Q10 deficiency
Delia Yubero, Raquel Montero, Judith Armstrong, et al.
Journal of the Neurological Sciences
|
November 26, 2008
Generalized muscle pseudo-hypertrophy and stiffness associated with the myotilin Ser55Phe mutation: a novel myotilinopathy phenotype?
Josep Gamez, Judith Armstrong, Alexey Shatunov, et al.
Page
of 9