المؤلفون: A S Azab, F. M. Mohammed, L Bastaki, A Elshafey, S A Gouda, S A Alawadi, K K Naguib

المصدر: Eastern Mediterranean Health Journal. 15:345-352

مصطلحات موضوعية: medicine.medical_specialty, Microcephaly, Pathology, Pediatrics, business.industry, Cytogenetics, General Medicine, Consanguinity, medicine.disease, Short stature, SSS, Hypoparathyroidism, Severe intrauterine growth retardation, medicine, Hypocalcaemia, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2e987895c41ef30bd15a23916f49a67e
https://doi.org/10.26719/2009.15.2.345

المؤلفون: A S Azab, F Hegazy, L Bastaki, K K Naguib, M M Al-Heneidi, N Turki

المصدر: Eastern Mediterranean Health Journal. 10:116-124

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Prominent forehead, business.industry, Locus (genetics), General Medicine, Mentally retarded, medicine.disease, Fragile X syndrome, High arched palate, Severity of illness, Medicine, Autism, business, Prospective cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::94fb8025753e927bc57ffc548e20bd5c
https://doi.org/10.26719/2004.10.1-2.116

المؤلفون: Francesco Brancati, L. Travaglini, D. Zablocka, E. Boltshauser, P. Accorsi, G. Montagna, J. L. Silhavy, G. Barrano, E. Bertini, F. Emma, L. Rigoli, International Jsrd Study Group, DALLA PICCOLA, Bruno, J. G. Gleeson, R. Valente Em Leventer, P. Grattan Smith, A. Janecke, M. D'Hooghe, R. Dias Van Coster, C. Moco, A. Moreira, C. A. Kim, G. Maegawa, G. M. H. Abdel Salam, A. Abdel Aleem, M. S. Zaki, I. Marti, S. Quijano Roy, P. De Lonlay, S. Romano, A. Verloes, R. Touraine, M. Koenig, C. Lagier Tourenne, J. Messer, H. Philippi, S. K. Tzeli, S. Halldorsson, J. Johannsdottir, P. Ludvigsson, S. R. Phadke, B. Stuart, A. Magee, D. Lev, M. Michelson, B. Ben Zeev, R. Fischetto, M. Gentile, S. Battaglia, L. Giordano, L. Pinelli, Boccone L. Ruggieri, S. Bigoni, A. Ferlini, M. A. Donati, E. Procopio, G. Caridi, F. Faravelli, G. Ghiggeri, S. Briuglia, C. D. Salpietro, G. Tortorella, S. D'Arrigo, C. Pantaleoni, D. Riva, G. Uziel, A. M. Laverda, A. Permunian, S. Bova, R. Battini, M. R. Cilio, M. Di Sabato, LEUZZI, Vincenzo, PARISI, Pasquale, A. Simonati, A. A. Al Tawari, L. Bastaki, Ahmad M. M. De Jong, R. Koul, A. Rajab, M. Azam, C. Barbot, B. Rodriguez, I. Pascual Castroviejo, H. Kayserili, S. Comu, M. Akcakus, L. Al Gazali, L. Sztriha, D. Nicholl, C. G. Woods, C. Bennett, J. Hurst, R. Hennekam, M. Lees, S. Bernes, H. Sanchez, A. E. Clark, E. Demarco, C. Donahue, E. Sherr, J. Hahn, T. D. Sanger, T. E. Gallager, W. B. Dobyns, C. Daugherty, K. S. Krishnamoorthy, D. Sarco, C. A. Walsh, T. Mckanna, J. Milisa, W. K. Chung, D. C. De Vivo, H. Raynes, R. Schubert, A. Seward, D. G. Brooks, A. Goldstein, J. Caldwell, E. Finsecke, Maria Bl, K. Holden, R. P. Cruse, K. G. Swoboda, D. Viskochil

المساهمون: Francesco, Brancati, L., Travaglini, D., Zablocka, E., Boltshauser, P., Accorsi, G., Montagna, J. L., Silhavy, G., Barrano, E., Bertini, F., Emma, L., Rigoli, International Jsrd Study, Group, DALLA PICCOLA, Bruno, J. G., Gleeson, R., Valente Em Leventer, P., Grattan Smith, A., Janecke, M., D'Hooghe, R., Dias Van Coster, C., Moco, A., Moreira, C. A., Kim, G., Maegawa, G. M. H., Abdel Salam, A., Abdel Aleem, M. S., Zaki, I., Marti, S., Quijano Roy, P., De Lonlay, S., Romano, A., Verloe, R., Touraine, M., Koenig, C., Lagier Tourenne, J., Messer, H., Philippi, S. K., Tzeli, S., Halldorsson, J., Johannsdottir, P., Ludvigsson, S. R., Phadke, B., Stuart, A., Magee, D., Lev, M., Michelson, B., Ben Zeev, R., Fischetto, M., Gentile, S., Battaglia, L., Giordano, L., Pinelli, Boccone L., Ruggieri, S., Bigoni, A., Ferlini, M. A., Donati, E., Procopio, G., Caridi, F., Faravelli, G., Ghiggeri, S., Briuglia, C. D., Salpietro, G., Tortorella, S., D'Arrigo, C., Pantaleoni, D., Riva, G., Uziel, A. M., Laverda, A., Permunian, S., Bova, R., Battini, M. R., Cilio, M., Di Sabato, Leuzzi, Vincenzo, Parisi, Pasquale, A., Simonati, A. A., Al Tawari, L., Bastaki, Ahmad M. M., De Jong, R., Koul, A., Rajab, M., Azam, C., Barbot, B., Rodriguez, I., Pascual Castroviejo, H., Kayserili, S., Comu, M., Akcaku, L., Al Gazali, L., Sztriha, D., Nicholl, C. G., Wood, C., Bennett, J., Hurst, R., Hennekam, M., Lee, S., Berne, H., Sanchez, A. E., Clark, E., Demarco, C., Donahue

مصطلحات موضوعية: joubert syndrome-related disorder, molar tooth sign, nephronophthisi, rpgrip1l

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/18565097; info:eu-repo/semantics/altIdentifier/wos/WOS:000257476200008; volume:74; issue:2; firstpage:164; lastpage:170; numberofpages:7; journal:CLINICAL GENETICS; http://hdl.handle.net/11573/227892; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-47149084412; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000257476200008&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a; http://www.scopus.com/inward/record.url?eid=2-s2.0-47149084412&partnerID=65&md5=44e4a02e127be0ae7ab075b69af48255

الاتاحة: http://hdl.handle.net/11573/227892
https://doi.org/10.1111/j.1399-0004.2008.01047.x
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000257476200008&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a
http://www.scopus.com/inward/record.url?eid=2-s2.0-47149084412&partnerID=65&md5=44e4a02e127be0ae7ab075b69af48255

المؤلفون: Lucy Feng, Jon Andoni Urtizberea, Mark R. Davis, Osorio Abath Neto, Julien Fauré, John Rendu, Anna Sarkozy, Laurent Servais, Sandra Donkervoort, S.Q. Roy, Glyn Williams, Helge Amthor, Pinki Munot, Sabrina W. Yum, Gemma Poke, Gina L. O'Grady, Maria Sframeli, Caroline Sewry, Susan Treves, A. Foley, Emily C. Oates, Norma B. Romero, Rahul Phadke, Christopher John Holmes, Jennifer E. Morgan, L. Medne, L. Bastaki, Francesco Muntoni, Adnan Y. Manzur, Irina Zaharieva, Joanne Dixon, E. Malfatti, Carsten G. Bönnemann

المصدر: Neuromuscular Disorders. 27:S39

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Malignant hyperthermia, Neurology (clinical), medicine.disease, business, Congenital myopathy, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::49921ebfe12e9324a0a50edc94a4f3d7
https://doi.org/10.1016/s0960-8966(17)30334-6

المؤلفون: M. Iannicelli, F. Brancati, S. Mougou Zerelli, A. Mazzotta, S. Thomas, N. Elkhartoufi, L. Travaglini, C. Gomes, G. L. Ardissino, E. Bertini, E. Boltshauser, P. Castorina, S. D'Arrigo, R. Fischetto, B. Leroy, P. Loget, M. Bonniere, L. Starck, J. Tantau, B. Gentilin, S. Majore, D. Swistun, E. Flori, F. Lalatta, C. Pantaleoni, J. Penzien, GRAMMATICO, Paola, L. Ali Pacha, M. Tazir, A. Zankl, R. Leventer, P. Grattan Smith, A. Janecke, M. D'Hooghe, Y. Sznajer, R. Van Coster, L. Demerleir, K. Dias, C. Moco, A. Moreira, C. Ae Kim, G. Maegawa, D. Loncarevic, V. Mejaski Bosnjak, D. Petkovic, G. M. Abdel Salam, A. Abdel Aleem, M. S. Zaki, I. Marti, S. Quijano Roy, S. Sigaudy, P. De Lonlay, S. Romano, A. Verloes, R. Touraine, M. Koenig, C. Lagier Tourenne, J. Messer, P. Collignon, N. Wolf, H. Philippi, J. Lemke, C. Dacou Voutetakis, S. Kitsiou Tzeli, R. Pons, L. Sztriha, S. Halldorsson, J. Johannsdottir, P. Ludvigsson, S. R. Phadke, V. Udani, B. Stuart, A. Magee, D. Lev, M. Michelson, B. Ben Zeev, M. Di Giacomo, M. Gentile, G. Guanti, O. D'Addato, F. Papadia, M. Spano, F. Bernardi, M. Seri, F. Benedicenti, F. Stanzial, R. Borgatti, P. Accorsi, S. Battaglia, E. Fazzi, L. Giordano, C. Izzi, L. Pinelli, L. Boccone, P. Guanciali, R. Romoli, S. Bigoni, A. Ferlini, E. Andreucci, M. A. Donati, M. Genuardi, G. Caridi, M. T. Divizia, F. Faravelli, G. Ghiggeri, M. Amorini, M. Briguglio, S. Briuglia, L. Rigoli, C. Salpietro, G. Tortorella, A. Adami, G. Marra, D. Riva, B. Scelsa, L. Spaccini, G. Uziel, G. Coppola, E. Del Giudice, G. Vitiello, A. M. Laverda, K. Ludwig, A. Permunian, A. Suppiej, C. Macaluso, S. Signorini, C. Uggetti, R. Battini, M. Priolo, M. R. Cilio, A. D'Amico, M. L. Di Sabato, F. Emma, LEUZZI, Vincenzo, PARISI, Pasquale, G. Stringini, G. Zanni, M. Pollazzon, A. Renieri, M. Vascotto, M. Silengo, R. De Vescovi, D. Greco, C. Romano, M. Cazzagon, A. Simonati, A. A. Al Tawari, L. Bastaki, A. Megarbane, A. Matuleviciene, V. Sabolic Avramovska, E. Said, M. M. De Jong, T. Prescott, P. Stromme, C. Von Der Lippe, R. Koul, A. Rajab, M. Azam, C. Barbot, B. Jocic Jakubi, B. Gener Querol, L. Martorell Sampol, B. Rodriguez, I. Pascual Castroviejo, S. Strozzi, J. Fluss, S. Teber, M. Topcu, B. Anlar, S. Comu, E. Karaca, H. Kayserili, A. Yuksel, M. Akgul, M. Akcakus, L. Al Gazali, D. Nicholl, C. G. Woods, C. Bennett, J. Hurst, E. Sheridan, A. Barnicoat, L. Carr, R. Hennekam, M. Lees, F. Mckay, L. Yates, E. Blair, S. Bernes, H. Sanchez, A. E. Clark, Marco E. De, C. Donahue, E. Sherr, J. Hahn, T. D. Sanger, T. E. Gallager, W. B. Dobyns, C. Daugherty, K. S. Krishnamoorthy, D. Sarco, C. A. Walsh, T. Mc Kanna, J. Milisa, W. K. Cjung, D. C. De Vivo, H. Raynes, R. Schubert, A. Seward, D. G. Brooks, A. Goldstein, J. Caldwell, E. Finsecke, B. L. Maria, K. Holden, R. P. Cruse, K. J. Swoboda, D. Viskochil, B. Dallapiccola, J. G. Gleeson, T. Attie Bitach, E. M. Valente

المساهمون: Iannicelli, M., Brancati, F., Mougou Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonniere, M., Starck, L., Tantau, J., Gentilin, B., Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, Paola, Ali Pacha, L., Tazir, M., Zankl, A., Leventer, R., Grattan Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Loncarevic, D., Mejaski Bosnjak, V., Petkovic, D., Abdel Salam, G. M., Abdel Aleem, A., Zaki, M. S., Marti, I., Quijano Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Lemke, J., Dacou Voutetakis, C., Kitsiou Tzeli, S., Pons, R., Sztriha, L., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben Zeev, B., Di Giacomo, M., Gentile, M., Guanti, G., D'Addato, O., Papadia, F., Spano, M., Bernardi, F., Seri, M., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Izzi, C., Pinelli, L., Boccone, L., Guanciali, P., Romoli, R., Bigoni, S., Ferlini, A., Andreucci, E., Donati, M. A.

مصطلحات موضوعية: congenital hepatic fibrosi, coach syndrome, mks3, meckel syndrome, joubert syndrome, tmem67

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/20232449; info:eu-repo/semantics/altIdentifier/wos/WOS:000279982000001; volume:31; issue:5; firstpage:E1319; lastpage:E1331; numberofpages:13; journal:HUMAN MUTATION; http://hdl.handle.net/11573/227776; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77951821478; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000279982000001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a; http://www.scopus.com/inward/record.url?eid=2-s2.0-77951821478&partnerID=65&md5=f5fcba4057c498376f525fc57a021f9c

الاتاحة: http://hdl.handle.net/11573/227776
https://doi.org/10.1002/humu.21239
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000279982000001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a
http://www.scopus.com/inward/record.url?eid=2-s2.0-77951821478&partnerID=65&md5=f5fcba4057c498376f525fc57a021f9c

المؤلفون: L. Travaglini, T. Attie Bitach, S. Audollent, E. Bertini, J. Kaplan, I. Perrault, M. Iannicelli, B. Mancuso, L. Rigoli, J. Rozet, D. Swistun, J. Tolentino, B. Dallapiccola, J. G. Gleeson, E. M. Valente, I. J. Study, A. Zankl, R. Leventer, P. Grattan Smith, A. Janecke, M. D'Hooghe, Y. Sznajer, R. V. Coster, L. Demerleir, K. Dias, C. Moco, A. Moreira, C. A. Kim, G. Maegawa, D. Petkovic, G. M. H, A. Abdel Aleem, M. S. Zaki, I. Marti, S. Quijano Roy, S. Sigaudy, P. d. Lonlay, S. Romano, R. Touraine, M. Koenig, C. Lagier Tourenne, J. Messer, P. Collignon, N. Wolf, H. Philippi, S. K. Tzeli, S. Halldorsson, J. Johannsdottir, P. Ludvigsson, S. R. Phadke, V. Udani, B. Stuart, A. Magee, D. Lev, M. Michelson, B. Ben Zeev, R. Fischetto, F. Benedicenti, F. Stanzial, R. Borgatti, P. Accorsi, S. Battaglia, E. Fazzi, L. Giordano, L. Pinelli, L. Boccone, S. Bigoni, A. Ferlini, M. A. Donati, G. Caridi, M. T. Divizia, F. Faravelli, G. Ghiggeri, A. Pessagno, M. Briguglio, S. Briuglia, C. D. Salpietro, G. Tortorella, A. Adami, P. Castorina, F. Lalatta, G. Marra, D. Riva, B. Scelsa, L. Spaccini, G. Uziel, E. D. Giudice, A. M. Laverda, K. Ludwig, A. Permunian, A. Suppiej, S. Signorini, C. Uggetti, R. Battini, M. D. Giacomo, M. R. Cilio, M. L. Di, V. Leuzzi, P. Parisi, M. Pollazzon, M. Silengo, R. D. Vescovi, D. Greco, C. Romano, M. Cazzagon, A. Simonati, A. A. Al Tawari, L. Bastaki, A. Mégarbané, V. S. Avramovska, M. M. de, P. Stromme, R. Koul, A. Rajab, M. Azam, C. Barbot, L. M. Sampol, B. Rodriguez, I. Pascual Castroviejo, S. Teber, B. Anlar, S. Comu, E. Karaca, H. Kayserili, A. Yüksel, M. Akcakus, L. A. Gazali, L. Sztriha, D. Nicholl, C. G. Woods, C. Bennett, J. Hurst, E. Sheridan, A. Barnicoat, R. Hennekam, M. Lees, E. Blair, S. Bernes, H. Sanchez, A. E. Clark, E. DeMarco, C. Donahue, E. Sherr, J. Hahn, T. D. Sanger, T. E. Gallager, W. B. Dobyns, C. Daugherty, K. S. Krishnamoorthy, D. Sarco, C. A. Walsh, T. McKanna, J. Milisa, W. K. Chung, D. C. De, H. Raynes, R. Schubert, A. Seward, D. G. Brooks, A. Goldstein, J. Caldwell, E. Finsecke, B. L. Maria, K. Holden, R. P. Cruse, K. J. Swoboda, D. Viskochil, BRANCATI, Francesco

المساهمون: L., Travaglini, Brancati, Francesco, T., Attie Bitach, S., Audollent, E., Bertini, J., Kaplan, I., Perrault, M., Iannicelli, B., Mancuso, L., Rigoli, J., Rozet, D., Swistun, J., Tolentino, B., Dallapiccola, J. G., Gleeson, E. M., Valente, I. J., Study, A., Zankl, R., Leventer, P., Grattan Smith, A., Janecke, M., D'Hooghe, Y., Sznajer, R. V., Coster, L., Demerleir, K., Dia, C., Moco, A., Moreira, C. A., Kim, G., Maegawa, D., Petkovic, G. M., H., A., Abdel Aleem, M. S., Zaki, I., Marti, S., Quijano Roy, S., Sigaudy, P. d., Lonlay, S., Romano, R., Touraine, M., Koenig, C., Lagier Tourenne, J., Messer, P., Collignon, N., Wolf, H., Philippi, S. K., Tzeli, S., Halldorsson, J., Johannsdottir, P., Ludvigsson, S. R., Phadke, V., Udani, B., Stuart, A., Magee, D., Lev, M., Michelson, B., Ben Zeev, R., Fischetto, F., Benedicenti, F., Stanzial, R., Borgatti, P., Accorsi, S., Battaglia, E., Fazzi, L., Giordano, L., Pinelli, L., Boccone, S., Bigoni, A., Ferlini, M. A., Donati, G., Caridi, M. T., Divizia, F., Faravelli, G., Ghiggeri, A., Pessagno, M., Briguglio, S., Briuglia, C. D., Salpietro, G., Tortorella, A., Adami, P., Castorina, F., Lalatta, G., Marra, D., Riva, B., Scelsa, L., Spaccini, G., Uziel, E. D., Giudice, A. M., Laverda, K., Ludwig, A., Permunian, A., Suppiej, S., Signorini, C., Uggetti, R., Battini, M. D., Giacomo, M. R., Cilio, M. L., Di, V., Leuzzi, P., Parisi

مصطلحات موضوعية: Abnormalitie, Multiple, genetics, Antigen, Neoplasm, genetics/metabolism, Base Sequence, Cilia, genetics/pathology, DNA Mutational Analysis, Female, Fetu, metabolism/pathology, Gene Deletion, Genetic Testing, Humans, Neoplasm Protein, RNA, Messenger, analysis, Syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/19764032; volume:149A; firstpage:2173; lastpage:2180; numberofpages:7; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11564/270796; http://dx.doi.org/10.1002/ajmg.a.33025

الاتاحة: http://hdl.handle.net/11564/270796
https://doi.org/10.1002/ajmg.a.33025

المؤلفون: K K, Naguib, S A, Gouda, A, Elshafey, F, Mohammed, L, Bastaki, A S, Azab, S A, Alawadi

المصدر: Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit. 15(2)

مصطلحات موضوعية: Heterozygote, Fetal Growth Retardation, Hypocalcemia, Hypoparathyroidism, Homozygote, Infant, Newborn, Genes, Recessive, Syndrome, Polymerase Chain Reaction, Consanguinity, Kuwait, Intellectual Disability, Cytogenetic Analysis, Mutation, Microcephaly, Humans, Abnormalities, Multiple, Chromosome Deletion, In Situ Hybridization, Fluorescence, Polymorphism, Single-Stranded Conformational, Molecular Chaperones

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::af41f6133e0fe00d7e60656e80779dac
https://pubmed.ncbi.nlm.nih.gov/19554981

المؤلفون: L, Bastaki, M M H, El-Nabi, A S, Azab, S A, Gouda, A M, Al-Wadaani, K K, Naguib

المصدر: Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit. 13(4)

مصطلحات موضوعية: Syndrome, Pedigree, Rare Diseases, Kuwait, Face, Intellectual Disability, Microcephaly, Humans, Abnormalities, Multiple, Female, Language Development Disorders, Syndactyly, Child, Growth Disorders, Genes, Dominant

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5ed3d259f0fd30069fb3fa9c8d41d540
https://pubmed.ncbi.nlm.nih.gov/17955782

المؤلفون: Kamini Kalidas, R Khan, H Patel, Johanna A. Reed, L Bastaki, Michael A. Simpson, Thomas T. Warner, P A Wilkinson, Andrew H. Crosby, E Samilchuk

مصطلحات موضوعية: Genetics, Adenosine Triphosphatases, Paraplegia, medicine.medical_specialty, Chromosomes, Human, Pair 12, Paraplegin, Hereditary spastic paraplegia, Genetic heterogeneity, Spastic Paraplegia, Hereditary, Biopsy, Chromosome Mapping, Locus (genetics), Genes, Recessive, Biology, medicine.disease, Mitochondrial respiratory chain, medicine, Homologous chromosome, Medical genetics, Humans, Muscle, Skeletal, Gene, Genetics (clinical), Letter to JMG

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0468814000eae227b18e02528accd858
https://europepmc.org/articles/PMC1735920/

المؤلفون: Khushnooda Ramzan, Dorota Monies, Salma M. Wakil, Samya Hagos, L. Bastaki, Saeed Bohlega, Brian F. Meyer

المصدر: Clinical Genetics. 86:500-501

مصطلحات موضوعية: Hereditary spastic paraplegia, Genetics, medicine, Biology, medicine.disease, Bioinformatics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e0219d179f8c50be98ed924fbf31dd7d
https://doi.org/10.1111/cge.12312

المؤلفون: L. Bastaki, Mohammad Z. Haider, Allie Moosa, Y. Habib

المصدر: Human heredity. 48(2)

مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, Duchenne muscular dystrophy, Muscular Dystrophies, law.invention, Dystrophin, Exon, law, Multiplex polymerase chain reaction, Genetics, medicine, Humans, Multiplex, Genetic Testing, Child, Gene, Genetics (clinical), Polymerase chain reaction, biology, Infant, Exons, medicine.disease, Molecular biology, Dystrophin gene, Arabs, Child, Preschool, biology.protein, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e3edd0ff909fef73dc792771021c774
https://pubmed.ncbi.nlm.nih.gov/9526164