المؤلفون: Barbosa, M, Sousa, AB, Medeira, A, Lourenço, T, Saraiva, J, Pinto-Basto, J, Soares, G, Fortuna, AM, Superti-Furga, A, Mittaz, L, Reis-Lima, M, Bonafé, L

مصطلحات موضوعية: Dwarfism/diagnosis, Dwarfism/epidemiology, Dwarfism/genetics, Genetic Testing, Osteochondrodysplasias/diagnosis, Osteochondrodysplasias/genetics, Phenotype, Cohort Studies, Adolescent, Child, Portugal, HDE GEN

Relation: Clin Genet. 2011 Dec;80(6):550-7; http://hdl.handle.net/10400.17/2483

الاتاحة: http://hdl.handle.net/10400.17/2483

المؤلفون: Mittaz, L., Ricardo, S., Martinez, G., Kola, I., Kelly, D. J., Little, M. H., Hertzog, P. J., Pritchard, M. A.

المصدر: Nephrology Dialysis Transplantation ; volume 20, issue 2, page 419-423 ; ISSN 0931-0509 1460-2385

الاتاحة: http://dx.doi.org/10.1093/ndt/gfh603
http://academic.oup.com/ndt/article-pdf/20/2/419/5196150/gfh603.pdf

المؤلفون: Mittaz, L., Russell, D.L., Wilson, T., Brasted, M., Tkalcevic, J., Salamonsen, L.A., Hertzog, P.J., Pritchard, M.A.

المصدر: Biology of Reproduction ; volume 70, issue 4, page 1096-1105 ; ISSN 0006-3363 1529-7268

الاتاحة: http://dx.doi.org/10.1095/biolreprod.103.023911
http://academic.oup.com/biolreprod/article-pdf/70/4/1096/10590024/biolreprod1096.pdf

المؤلفون: Roessler, E., Mittaz, L., Du, Y., Scott, H. S., Chang, J., Rossier, C., Guipponi, M., Matsuda, S. P. T., Muenke, M., Antonarakis, S. E.

Relation: https://doi.org/10.1007/s004390051135; oai:zenodo.org:1232966

الاتاحة: https://doi.org/10.1007/s004390051135

المؤلفون: Kacinska-Pfaller, E., Peters, C., Matthes-Martin, S., Bonafe, L., Mittaz, L., Geyeregger, R., Lion, T.

المصدر: 36th Annual Meeting of the European-Group-for-Blood-and-Marrow-Transplantat, 9th Meeting of the EBMT Data-Management-Group, 26th Meeting of the EBMT Nurses Group, 2nd EBMT Qual Management Meeting, vol. 45, pp. S271

Relation: info:eu-repo/semantics/altIdentifier/isbn/0268-3369; https://serval.unil.ch/notice/serval:BIB_40B7D9EA5F37

الاتاحة: https://serval.unil.ch/notice/serval:BIB_40B7D9EA5F37

المؤلفون: Segarra NG, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafe L

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 12-07-2012

Relation: https://eprints.ncl.ac.uk/195585

الاتاحة: https://eprints.ncl.ac.uk/195585

المؤلفون: Mendoza-Londono, R., Chitayat, D., Kahr, W.H., Hinek, A., Blaser, S., Dupuis, L., Goh, E., Badilla-Porras, R., Howard, A., Mittaz, L., Superti-Furga, A., Unger, S., Nishimura, G., Bonafe, L.

المصدر: American Journal of Medical Genetics. Part A, vol. 158A, no. 6, pp. 1344-1354

Relation: info:eu-repo/semantics/altIdentifier/pmid/22581468; info:eu-repo/semantics/altIdentifier/eissn/1552-4833; https://serval.unil.ch/notice/serval:BIB_24D53E9B6808

الاتاحة: https://serval.unil.ch/notice/serval:BIB_24D53E9B6808
https://doi.org/10.1002/ajmg.a.35339

المؤلفون: Garcia Segarra, N., Mittaz, L., Campos-Xavier, A.B., Bartels, C.F., Tuysuz, B., Alanay, Y., Cimaz, R., Cormier-Daire, V., Di Rocco, M., Duba, H.C., Elcioglu, N.H., Forzano, F., Hospach, T., Kilic, E., Kuemmerle-Deschner, J.B., Mortier, G., Mrusek, S., Nampoothiri, S., Obersztyn, E., Pauli, R.M., Selicorni, A., Tenconi, R., Unger, S., Utine, G.E., Wright, M., Zabel, B., Warman, M.L., Superti-Furga, A., Bonafé, L.

المصدر: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol. 160, no. 3, pp. 217-229

Relation: info:eu-repo/semantics/altIdentifier/pmid/22791401; info:eu-repo/semantics/altIdentifier/eissn/1552-4876; https://serval.unil.ch/notice/serval:BIB_FEEB9785A014

الاتاحة: https://serval.unil.ch/notice/serval:BIB_FEEB9785A014
https://doi.org/10.1002/ajmg.c.31333

المؤلفون: Scott, H.S., Antonarakis, S.E., Mittaz, L., Lalioti, M.D., Younus, F., Mohyuddin, A., Mehdi, S.Q., Gal, A.

المصدر: Advances in Oto-Rhino-Laryngology ; Genetics in Otorhinolaryngology ; page 158-163 ; ISBN 3805569564

الاتاحة: http://dx.doi.org/10.1159/000059096
http://www.karger.com/Article/Pdf/59096

المؤلفون: Barbosa, M., Sousa, A.B., Medeira, A., Lourenço, T., Saraiva, J., Pinto-Basto, J., Soares, G., Fortuna, A.M., Superti-Furga, A., Mittaz, L., Reis-Lima, M., Bonafé, L.

المصدر: Clinical Genetics, vol. 80, no. 6, pp. 550-557

مصطلحات موضوعية: Adolescent, Adult, Alleles, Anion Transport Proteins/genetics, Body Height, Child, Preschool, Cohort Studies, Dwarfism/diagnosis, Dwarfism/epidemiology, European Continental Ancestry Group/genetics, Female, Genetic Association Studies, Genetic Testing, Genotype, Humans, Male, Mutation, Osteochondrodysplasias/diagnosis, Osteochondrodysplasias/genetics, Phenotype, Portugal/epidemiology, Young Adult

Relation: info:eu-repo/semantics/altIdentifier/pmid/21155763; info:eu-repo/semantics/altIdentifier/eissn/1399-0004; https://serval.unil.ch/notice/serval:BIB_A025D3CC7A3A

الاتاحة: https://serval.unil.ch/notice/serval:BIB_A025D3CC7A3A
https://doi.org/10.1111/j.1399-0004.2010.01595.x

المؤلفون: Rieubland, C., Jacquemont, S., Mittaz, L., Osterheld, M.C., Vial, Y., Superti-Furga, A., Unger, S., Bonafé, L.

المصدر: European Journal of Medical Genetics, vol. 53, no. 5, pp. 294-298

مصطلحات موضوعية: Abnormalities, Multiple/genetics, Dwarfism/genetics, Encephalocele/genetics, Female, Heparan Sulfate Proteoglycans/genetics, Humans, Meningocele/genetics, Osteochondrodysplasias/genetics, Point Mutation, Pregnancy

Relation: info:eu-repo/semantics/altIdentifier/pmid/20542149; info:eu-repo/semantics/altIdentifier/eissn/1878-0849; https://serval.unil.ch/notice/serval:BIB_E21E9F6AF726

الاتاحة: https://serval.unil.ch/notice/serval:BIB_E21E9F6AF726
https://doi.org/10.1016/j.ejmg.2010.06.005

المؤلفون: Campos-Xavier, A.B., Martinet, D., Bateman, J., Belluoccio, D., Rowley, L., Tan, T.Y., Baxová, A., Gustavson, K.H., Borochowitz, Z.U., Innes, A.M., Unger, S., Beckmann, J.S., Mittaz, L., Ballhausen, D., Superti-Furga, A., Savarirayan, R., Bonafé, L.

المصدر: American Journal of Human Genetics, vol. 84, no. 6, pp. 760-770

مصطلحات موضوعية: Abnormalities, Multiple/genetics, Animals, Child, Preschool, Chondrocytes/metabolism, Chromosome Mapping, Chromosomes, Human, Pair 13/genetics, Comparative Genomic Hybridization, Dwarfism/genetics, Female, Fluorescent Antibody Technique, Genes, Recessive/genetics, Glypicans/genetics, Humans, Infant, Newborn, Male, Mice, Mutation/genetics, Osteogenesis/physiology

Relation: info:eu-repo/semantics/altIdentifier/pmid/19481194; info:eu-repo/semantics/altIdentifier/pissn/1537-6605[electronic]; https://serval.unil.ch/notice/serval:BIB_5E5E949BD2E0

الاتاحة: https://serval.unil.ch/notice/serval:BIB_5E5E949BD2E0
https://doi.org/10.1016/j.ajhg.2009.05.002

المؤلفون: Hubert, F., Kinkel, S., Crewther, P., Cannon, P., Webster, K., Link, M., Uibo, R., O'Bryan, M., Meager, A., Forehan, S., Smyth, G., Mittaz, L., Antonarakis, S., Peterson, P., Heath, W., Scott, H.

المصدر: http://www.jimmunol.org/content/182/6/3902.full.

مصطلحات موضوعية: Thymus Gland, Cell Line, Animals, Mice, Inbred C57BL, Inbred CBA, Knockout, Humans, Polyendocrinopathies, Autoimmune, Disease Models, Animal, Transcription Factors, Mutagenesis, Site-Directed, Molecular Mimicry, Amino Acid Sequence, Base Sequence, Base Pairing, Sequence Homology, Amino Acid, Phenotype, Molecular Sequence Data, Male, AIRE Protein

Relation: http://purl.org/au-research/grants/nhmrc/257501; http://purl.org/au-research/grants/nhmrc/264573; http://purl.org/au-research/grants/nhmrc/406700; Journal of Immunology, 2009; 182(6):3902-3918; http://hdl.handle.net/2440/66002; O'Bryan, M. [0000-0001-7298-4940]; Scott, H. [0000-0002-5813-631X]

الاتاحة: http://hdl.handle.net/2440/66002
https://doi.org/10.4049/jimmunol.0802124

المؤلفون: Ballhausen, D., Mittaz, L., Boulat, O., Bonafé, L., Braissant, O.

المصدر: Neuroscience ; volume 164, issue 2, page 578-587 ; ISSN 0306-4522

الاتاحة: http://dx.doi.org/10.1016/j.neuroscience.2009.08.028
https://api.elsevier.com/content/article/PII:S0306452209013852?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0306452209013852?httpAccept=text/plain

المؤلفون: Jeannet, P. Y., Mittaz, L., Dunand, M., Lobrinus, J. A., Bonafe, L., Kuntzer, T.

المصدر: Serveur académique Lausannois ; Neuromuscular Disorders, vol. 17, no. 1, pp. 6-12

مصطلحات موضوعية: socio, demo

Relation: 10670/1.rclry4; https://serval.unil.ch/notice/serval:BIB_53C448963634

الاتاحة: https://doi.org/10.1016/j.nmd.2006.10.005
https://serval.unil.ch/notice/serval:BIB_53C448963634

المؤلفون: Mittaz, L., Ricardo, S., Martinez, G., Kola, I., Kelly, D. J., Little, M. H., Hertzog, P. J., Pritchard, M. A.

مصطلحات موضوعية: Adamts-1, Calyceal Dilation, Dysgenesis, Kidney, Knock-out, Obstruction, Transplantation, Urology & Nephrology, Expression, 270210 Neurogenetics, C1, 780105 Biological sciences

Relation: orcid:0000-0003-0380-2263

الاتاحة: https://espace.library.uq.edu.au/view/UQ:76314

المؤلفون: Scott, Hamish Steele, Antonarakis, Stylianos, Mittaz, L., Lalioti, M. D., Younus, F., Mohyuddin, A., Mehdi, S. Q., Gal, A.

المصدر: ISSN: 0065-3071 ; Advances in oto-rhino-laryngology, vol. 56 (2000) p. 158-163.

مصطلحات موضوعية: info:eu-repo/classification/ddc/576.5, Chromosome Mapping, Chromosomes, Human, Pair 21, Deafness/ genetics, Female, Genes, Recessive, Humans, Male, Pedigree

Relation: info:eu-repo/semantics/altIdentifier/pmid/10868228; https://archive-ouverte.unige.ch/unige:9259; unige:9259

الاتاحة: https://archive-ouverte.unige.ch/unige:9259

المؤلفون: Mittaz, L., Rossier, Colette, Heino, M., Peterson, P., Krohn, K. J., Gos, A., Morris, Michael Andréw, Kudoh, J., Shimizu, N., Antonarakis, Stylianos, Scott, Hamish Steele

المصدر: ISSN: 0006-291X ; Biochemical and biophysical research communications, vol. 255, no. 2 (1999) p. 483-490.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616, Animals, Chromosome Mapping, Female, Genes, Humans, Mice, Inbred C57BL, Molecular Sequence Data, Polyendocrinopathies, Autoimmune/ genetics, Promoter Regions, Genetic, Repetitive Sequences, Nucleic Acid, Sequence Analysis, DNA, Sequence Homology, Transcription Factors/chemistry/ genetics/ isolation & purification

Relation: info:eu-repo/semantics/altIdentifier/pmid/10049735; https://archive-ouverte.unige.ch/unige:8905; unige:8905

الاتاحة: https://archive-ouverte.unige.ch/unige:8905

المؤلفون: Heino, M., Scott, Hamish Steele, Chen, Q., Peterson, P., Maebpaa, U., Papasavvas, M. P., Mittaz, L., Barras, Christine, Rossier, Colette, Chrousos, G. P., Stratakis, C. A., Nagamine, K., Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, Stylianos, Krohn, K.

المصدر: ISSN: 1059-7794 ; Human mutation, vol. 13, no. 1 (1999) p. 69-74.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616, DNA Mutational Analysis, Female, Gene Deletion, Genotype, Haploidy, Humans, Male, North America/ethnology, Phenotype, Polyendocrinopathies, Autoimmune/ethnology/ genetics, Sequence Deletion, Transcription Factors/ genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/9888391; https://archive-ouverte.unige.ch/unige:8800; unige:8800

الاتاحة: https://archive-ouverte.unige.ch/unige:8800

المؤلفون: Scott, Hamish Steele, Heino, M., Peterson, P., Mittaz, L., Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone, M., Romeo, G., Collin, P., Salo, M., Metcalfe, R., Weetman, A., Papasavvas, M. P., Rossier, Colette, Nagamine, K., Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, Stylianos

المصدر: ISSN: 0888-8809 ; Molecular endocrinology, vol. 12, no. 8 (1998) p. 1112-1119.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616, Female, Haplotypes, Humans, Italy, Male, Mutation, Polyendocrinopathies, Autoimmune/epidemiology/ genetics, Polymorphism, Genetic

Relation: info:eu-repo/semantics/altIdentifier/pmid/9717837; https://archive-ouverte.unige.ch/unige:9028; unige:9028

الاتاحة: https://archive-ouverte.unige.ch/unige:9028