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المصدر: Galen Medical Journal. 8:1161
مصطلحات موضوعية: sense organs, eye diseases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0a73679b650095d90055bc41361b07da
https://doi.org/10.31661/gmj.v8i0.1161 -
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المؤلفون: David Beeson, Hanns Lochmüller, Doriette Soler, Ariana Kariminejad, J. P. Sieb, Janbernd Kirschner, Beate Schlotter, Yalda Nilipour, Andoni Urtizberea, Nuria Muelas, Amina Chaouch, Ortrud K. Steinlein, Jaume Colomer, Bita Bozorgmehr, Jacqueline Palace, Carmelo Rodolico, Volker Straub, Juan J. Vílchez, Jan Senderek, Ralf Herrmann, Anders Oldfors, Hossein Najmabadi, Francesco Muntoni, Kate Bushby, Angela Abicht, Christopher Lindbergh, Shahriar Nafissi, Susan Maxwell, Benedikt Schoser, Andrés Nascimento, Marina Dusl, Cecilia Jimenez Mallebrera, Velina Guergueltcheva, Thomas Voit, Michael G. Hanna, Abdolhamid Najafi, Juliane S. Müller
المصدر: JOURNAL OF NEUROLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instnameمصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Weakness, Proximal muscle weakness, Positional cloning, Adolescent, DNA Mutational Analysis, Medizin, Neuromuscular transmission, Context (language use), Severity of Illness Index, Young Adult, Medicine, Humans, Child, health care economics and organizations, Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing), Myasthenic Syndromes, Congenital, Muscle biopsy, biology, medicine.diagnostic_test, business.industry, Congenital myasthenic syndromes, Dok-7, GFPT1, Limb-girdle myasthenia, Tubular aggregates, Congenital myasthenic syndrome, Middle Aged, medicine.disease, Neurology, Mutation, biology.protein, Neurology (clinical), medicine.symptom, business, Dok-7, Myopathies, Structural, Congenital
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المؤلفون: Louise E. Allen, Elizabeth E. Norgett, Fiona E. Karet Frankl, Abdolhamid Najafi, Katherine G. Blake-Palmer, Mostafa Sharifian, Ariana Kariminejad, Anthony Yii
المصدر: BMC Medical Genetics
مصطلحات موضوعية: Proband, Adult, Male, Pathology, medicine.medical_specialty, Case Report, Biology, medicine.disease_cause, Retina, Atrophy, Distal renal tubular acidosis, medicine, Genetics, Humans, Genetics(clinical), Genetics (clinical), Acidosis, Sequence Deletion, Homeodomain Proteins, Mutation, ATP6V1B1, Base Sequence, dRTA, Genome, Human, Dystrophy, Infant, Acidosis, Renal Tubular, medicine.disease, Phenotype, VAX2, Child, Preschool, Chromosomes, Human, Pair 2, Failure to thrive, H+-ATPase, medicine.symptom, Nephrocalcinosis
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المؤلفون: Bita Bozorgmehr, Fransiska Malfait, Daniela Quaglino, Mohammad Jakir Hosen, Abdolhamid Najafi, Ariana Kariminejad, Raoul C.M. Hennekam, Hossein Najmabadi, Arthur A.B. Bergen, Olivier Vanakker, Maryam Ghalandari, Ralph J. Florijn, Atefeh Khoshaeen, Mohamad Hasan Kariminejad
المساهمون: Netherlands Institute for Neuroscience (NIN), Human Genetics, Amsterdam Neuroscience, Amsterdam Public Health
المصدر: Journal of Investigative Dermatology, 134(9), 2331-8. Nature Publishing Group
Journal of investigative dermatology, 134(9), 2331-2338. Nature Publishing Groupمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Heterozygote, Vitamin K, Adolescent, Carbon-Carbon Ligases, Child, Cutis Laxa, Family Health, Female, Homozygote, Humans, Middle Aged, Pedigree, Phenotype, Pseudoxanthoma Elasticum, RNA Splice Sites, Retinitis Pigmentosa, Skin, Young Adult, 2708, Biochemistry, Cell Biology, Molecular Biology, Medicine (all), Dermatology, Biology, medicine.disease_cause, Molecular genetics, Retinitis pigmentosa, medicine, Genetics, Mutation, Wild type, Heterozygote advantage, medicine.disease, Pseudoxanthoma elasticum, Cutis laxa
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