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1دورية أكاديمية
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2دورية أكاديمية
المؤلفون: Rachel Pferdehirt, Mahim Jain, Maria A. Blazo, Brendan Lee, Lindsay C. Burrage
المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 89-91 (2015)
مصطلحات موضوعية: Catel-Manzke syndrome, Hyperphalangy, Manzke dysostosis, Pierre Robin sequence, TGDS, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المصدر: American Journal of Medical Genetics Part A. 182:437-440
مصطلحات موضوعية: 0301 basic medicine, Proximal phalanx, Adolescent, 030105 genetics & heredity, 03 medical and health sciences, Pathognomonic, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Hydro-Lyases, Genetics (clinical), Robin Sequence, Pierre Robin Syndrome, business.industry, Hand anomalies, Dysostosis, Anatomy, medicine.disease, Joint hyperextensibility, 030104 developmental biology, Catel–Manzke syndrome, Child, Preschool, Mutation, Cardiac defects, Female, business, Hand Deformities, Congenital, Mandibulofacial Dysostosis
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4دورية أكاديمية
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المؤلفون: Christiaan de Bruin, Felix Boschann, Hermine A van Duyvenvoorde, Kyra E. Stuurman, Nadja Ehmke, Marjon van Slegtenhorst, S.G. Kant
المساهمون: Clinical Genetics
المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A. WILEY
American Journal of Medical Genetics, Part A, 182, 431-436. Wiley-Liss Inc.مصطلحات موضوعية: Male, 0301 basic medicine, Clinodactyly, Adolescent, 030105 genetics & heredity, Short stature, Catel-Manzke syndrome, 03 medical and health sciences, Radial deviation, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Alleles, Hydro-Lyases, Genetics (clinical), Sequence (medicine), Pierre Robin Syndrome, business.industry, hyperphalangy, Diagnostic test, Metacarpophalangeal joint, Anatomy, Phalanx, medicine.disease, Manzke dysostosis, short stature, Polydactyly, 030104 developmental biology, medicine.anatomical_structure, TGDS, Catel–Manzke syndrome, Child, Preschool, Mutation, Female, Pierre-Robin sequence, medicine.symptom, business, Hand Deformities, Congenital, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
وصف الملف: application/pdf
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المؤلفون: Laurence Perrin, Céline Huber, Odile Boute, Christine Bole-Feysot, Pierre Bitoun, Yasemin Alanay, Patrick Nitschke, Beyhan Tüysüz, Chloé Quélin, E. Ranza, Cécile Masson, Geneviève Baujat, Christine Coubes, Valérie Cormier-Daire, Nicolas Levin, Nursel Elcioglu, Lihadh Al-Gazali, Paulien A Terhal, Laurence Faivre, Meriel McEntagart, Diana Johnson, Banu Güzel Nur, Philippe M. Campeau, Ercan Mihci, Alper Gezdirici
المصدر: Clinical Genetics. 91:868-880
مصطلحات موضوعية: 0301 basic medicine, Spondyloepimetaphyseal dysplasia, business.industry, 030105 genetics & heredity, medicine.disease, Bioinformatics, Phenotype, Short stature, 3. Good health, 03 medical and health sciences, Catel–Manzke syndrome, Genetics, Etiology, Medicine, Larsen syndrome, Joint dislocation, medicine.symptom, 10. No inequality, business, Genetics (clinical), Exome sequencing
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المؤلفون: Björn Fischer-Zirnsak, Uwe Kornak, Maximilian Muenke, Holly Babcock, Nadja Ehmke, Carlos Ferreira, Sarah H. Elsea, Judith Jochim, Ercan Mihci, Alexander Balzer, Jing Xiao, Céline Huber, Banu Güzel Nur, Kristina Cusmano-Ozog, Ariel F. Martinez, Manuel Holtgrewe, John D. Overton, Naji El Choubassi, Claudia Gonzaga-Jauregui, Rainer Koenig, Valérie Cormier-Daire
المصدر: Bone. 133:115219
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Histology, Clinodactyly, Physiology, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Short stature, Gastroenterology, Fingers, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, Humans, Missense mutation, Xanthurenic acid, Exome sequencing, Pierre Robin Syndrome, business.industry, Homozygote, medicine.disease, 030104 developmental biology, chemistry, Catel–Manzke syndrome, Mutation, medicine.symptom, Differential diagnosis, business, Hand Deformities, Congenital, Urine organic acids
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المؤلفون: Brendan Lee, Lindsay C. Burrage, Mahim Jain, Maria Blazo, Rachel Pferdehirt
المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 89-91 (2015)
Molecular Genetics and Metabolism Reportsمصطلحات موضوعية: Respiratory complications, Clinodactyly, Case Report, Biology, Compound heterozygosity, medicine.disease_cause, Catel-Manzke syndrome, 03 medical and health sciences, Endocrinology, Genetics, medicine, Molecular Biology, lcsh:QH301-705.5, 030304 developmental biology, 0303 health sciences, Robin Sequence, Mutation, lcsh:R5-920, Pierre Robin sequence, 030305 genetics & heredity, Hyperphalangy, medicine.disease, Phenotype, 3. Good health, Manzke dysostosis, TGDS, Catel–Manzke syndrome, lcsh:Biology (General), Failure to thrive, medicine.symptom, lcsh:Medicine (General)
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9دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.