-
71Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
المؤلفون: Soma Das, David H. Ledbetter, William B. Dobyns, Patti L. Mills, M. Elizabeth Ross, Naomichi Matsumoto, Daniela T. Pilz, Laura L. Dudlicek, Julie A. Kuc, Melissa B. Ramocki, Richard J. Leventer, Stephanie K. Mewborn
المصدر: European journal of human genetics : EJHG. 9(1)
مصطلحات موضوعية: Doublecortin Domain Proteins, Male, Doublecortin Protein, X Chromosome, Genotype, Nonsense mutation, DNA Mutational Analysis, Germline mosaicism, medicine.disease_cause, Cohort Studies, PAFAH1B1, Germline mutation, Dosage Compensation, Genetic, Genetics, medicine, Missense mutation, Humans, Genetics (clinical), Germ-Line Mutation, Mutation, biology, Mosaicism, Neuropeptides, Brain, DNA, Doublecortin, Phenotype, biology.protein, Female, Microtubule-Associated Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::146426097b5341b66a739648132853baTest
https://pubmed.ncbi.nlm.nih.gov/11175293Test -
72
المؤلفون: Lorraine F. May, David H. Ledbetter, Melissa B. Ramocki, Daniela T. Pilz, Laura L. Dudlicek, Julie A. Kuc, Patti L. Mills, Naomichi Matsumoto, Richard J. Leventer, Stephanie K. Mewborn, William B. Dobyns, Carlos Cardoso, Soma Das
المصدر: Human molecular genetics. 9(20)
مصطلحات موضوعية: Male, Genotype, Protein Conformation, Protein subunit, Molecular Sequence Data, Mutation, Missense, Lissencephaly, Biology, medicine.disease_cause, Nervous System Malformations, PAFAH1B1, Genetics, medicine, Missense mutation, Humans, Amino Acid Sequence, Molecular Biology, Gene, Genetics (clinical), Mutation, Sequence Homology, Amino Acid, Chromosome Mapping, General Medicine, Exons, medicine.disease, Phenotype, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Female, Microtubule-Associated Proteins, Gene Deletion, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::817e3e0e0ed24a2c22858f9c64a7950aTest
https://pubmed.ncbi.nlm.nih.gov/11115846Test -
73
المؤلفون: David H. Ledbetter, Naomichi Matsumoto, William B. Dobyns, Carlo Alberto Tassinari, Joann Bodurtha, Julie A. Kuc, Daniela T. Pilz, Bruno Bernadi
المصدر: Human molecular genetics. 8(9)
مصطلحات موضوعية: Doublecortin Domain Proteins, Male, Doublecortin Protein, DNA Mutational Analysis, Mutation, Missense, Lissencephaly, Biology, Germline, White matter, Exon, Genotype, Genetics, medicine, Missense mutation, Humans, Molecular Biology, Gene, Genetics (clinical), Neuropeptides, Brain, General Medicine, Exons, medicine.disease, Phenotype, Magnetic Resonance Imaging, medicine.anatomical_structure, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Female, Microtubule-Associated Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa3855d7cddcb4df2bca0566a6a639a1Test
https://pubmed.ncbi.nlm.nih.gov/10441340Test -
74
المؤلفون: Naomichi Matsumoto, A. J. Barkovich, M. E. Ross, David H. Ledbetter, Chip Truwit, Daniela T. Pilz, William B. Dobyns, Joseph G. Gleeson, Christopher A. Walsh
المصدر: Neurology. 53(2)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, X Chromosome, Genotype, Genetic Linkage, Lissencephaly, Biology, Gene mutation, medicine.disease_cause, PAFAH1B1, medicine, Humans, Child, X chromosome, Genetics, Mutation, Brain Diseases, Pachygyria, Brain, medicine.disease, Magnetic Resonance Imaging, Chromosome 17 (human), Phenotype, Cerebellar vermis, Neurology (clinical), Gene Deletion, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81cf755aa00d5eb8e21b66e5ab3c2737Test
https://pubmed.ncbi.nlm.nih.gov/10430413Test -
75
المؤلفون: A. James Barkovich, Christopher A. Walsh, M. Elizabeth Ross, Patti L. Mills, Naomichi Matsumoto, Kristin M. Allen, David H. Ledbetter, William B. Dobyns, Daniela T. Pilz, Joseph G. Gleeson, Sharon R. Minnerath
المصدر: Human molecular genetics. 7(13)
مصطلحات موضوعية: Doublecortin Domain Proteins, Male, Doublecortin Protein, Genotype, DNA Mutational Analysis, Molecular Sequence Data, Lissencephaly, Biology, medicine.disease_cause, Nervous System Malformations, PAFAH1B1, Intellectual Disability, Genetics, medicine, Humans, Amino Acid Sequence, Molecular Biology, Genetics (clinical), Mutation, Miller–Dieker syndrome, medicine.diagnostic_test, Point mutation, Neuropeptides, Brain, Proteins, General Medicine, DNA, Exons, medicine.disease, Phenotype, Introns, Neuronal migration disorder, 1-Alkyl-2-acetylglycerophosphocholine Esterase, Female, Microtubule-Associated Proteins, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::beaa2bfad6dea7fe6d420a994c16714fTest
https://pubmed.ncbi.nlm.nih.gov/9817918Test -
76
المؤلفون: M Tischkowitz, Peter S. Harper, Daniela T. Pilz
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, business.industry, Genetic Diseases, Inborn, Teratoma, Middle Aged, medicine.disease, Text mining, Endocrinology, Testicular Neoplasms, Internal medicine, Genetics, Carcinoma, Medicine, Humans, Female, Germinoma, business, Genetics (clinical), Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17e62a5127476b26d47c1f018e8fc65fTest
https://europepmc.org/articles/PMC1051201Test/ -
77دورية أكاديمية
المؤلفون: Carlos Cardoso, Richard J. Leventer, Heather L. Ward, Kazuhito Toyo-oka, June Chung, Alyssa Gross, Christa L. Martin, Judith Allanson, Daniela T. Pilz, Ann H. Olney, Osvaldo M. Mutchinick, Shinji Hirotsune, Anthony Wynshaw-boris, William B. Dobyns, David H. Ledbetter, Inserm U, Faculté Demédecine La Timone
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: http://www.inmed.univ-mrs.fr/maj/upload/publications/AmTest J Hum Genet 2003 Cardoso.pdf.
وصف الملف: application/pdf
العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.379.1019Test; http://www.inmed.univ-mrs.fr/maj/upload/publications/AmTest J Hum Genet 2003 Cardoso.pdf
الإتاحة: http://www.inmed.univ-mrs.fr/maj/upload/publications/AmTest J Hum Genet 2003 Cardoso.pdf
-
78دورية أكاديمية
المؤلفون: Carlos Cardoso, Richard J. Leventer, James J. Dowling, Heather L. Ward, June Chung, Kristin S. Petras, Jessica A. Roseberry, Ann M. Weiss, Soma Das, Christa Lese Martin, Daniela T. Pilz, William B. Dobyns, David H. Ledbetter
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: http://www.inmed.univ-mrs.fr/maj/upload/publications/HumTest Mutat 2002 Cardoso.pdf.
وصف الملف: application/pdf
العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.378.7782Test; http://www.inmed.univ-mrs.fr/maj/upload/publications/HumTest Mutat 2002 Cardoso.pdf
الإتاحة: http://www.inmed.univ-mrs.fr/maj/upload/publications/HumTest Mutat 2002 Cardoso.pdf
-
79دورية أكاديمية
المؤلفون: Hayley L Archer, Sharon D Whatley, Julie C Evans, David Ravine, David Bunyan, Bronwyn Kerr, Elizabeth Sweeney, Sally J Davies, William Reardon, Janet Horn, Kay D Macdermot, Robert A Smith, Ra Magee, Alan Donaldson, Yanick Crow, Gail Hermon, Zosia Miedzybrodzka, David N Cooper, Lazarus Lazarou, Rachel Butler, Julian Sampson, Daniela T Pilz, Franco Laccone, Angus J Clarke
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
-
80دورية أكاديمية
المؤلفون: Amy E. Merrill, Elena G. Bochukova, Sean M. Brugger, Mamoru Ishii, Daniela T. Pilz, Steven A. Wall, Karen M. Lyons, Andrew O. M. Wilkie, Robert E. Maxson
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf