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1دورية أكاديمية
المؤلفون: Ivy van Dijke, Carla G van El, Phillis Lakeman, Mariëtte Goddijn, Tessel Rigter, Martina C Cornel, Lidewij Henneman
المصدر: PLoS ONE, Vol 17, Iss 6, p e0269719 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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2دورية أكاديمية
المؤلفون: Jill K. Tjon, Phillis Lakeman, Elisabeth vanLeeuwen, Quinten Waisfisz, Marjan M. Weiss, Gita M. B. Tan‐Sindhunata, Peter G. J. Nikkels, Patrick J. P. van derVoorn, Gajja S. Salomons, George L. Burchell, Ingeborg H. Linskens, Bloeme J. van derKnoop, Johanna I. P. deVries
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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3
المؤلفون: Roseline Caume, M Scott Perry, Massimo Mastrangelo, Margarete Koch-Hogrebe, Pasquale Striano, Karen Müller-Schlüter, Petra Laššuthová, Monisa D. Wagner, Ingo Helbig, Stephan Lauxmann, Emmanuel Scalais, Marie-Cécile Nassogne, Silvia Masnada, Henrike O. Heyne, Konrad Platzer, Frederic Bilan, Chloe A Stutterd, Sonja Walsh, Katrine M Johannesen, Damien Lederer, Ngoc Minh Le, Christina Fenger, Daniel Tibussek, Lukas Sonnenberg, Andrea Berger, Yuanyuan Liu, Mikhail Abramov, Karen E. Wain, Sergey Korostelev, P Y Billie Au, Elena L. Dadali, An-Sofie Schoonjans, Cornelia Betzler, Artem Borovikov, Johanna Krüger, Maert Rannap, Sebastian Lebon, Nils A Koch, Nancy Eisenhauer, Judith Kroell-Seger, Julian Schubert, Marije Meuwissen, Caroline Lund, Mark Fitzgerald, Federico Zara, Siddharth Srivastava, Claudia M Bonardi, Pia Zacher, Haim Bassan, Arve Vøllo, Katherine B. Howell, Francesca Darra, Guido Rubboli, Stephen W. Scherer, Bénédicte Gérard, Stefano Sartori, Annapurna Poduri, Helene Verhelst, Katalin Sterbova, Mathilde Nizon, Marketa Vlckova, Christina E. Hoei-Hansen, Renzo Guerrini, Ilya V. Kanivets, Juliann M. Savatt, Johannes Rebstock, Jakob Christensen, Cecilia Altuzarra, Dennis Lal, Judith S. Verhoeven, Agathe Roubertie, Constanze Heine, Dagmar Wieczorek, Ingo Borggraefe, Aster V. E. Harder, Anne Destrée, Wen-Hann Tan, Tobias Brünger, Shoji Ichikawa, Laura Canafoglia, Mahmoud Koko, Sergey Kutsev, Sabine Grønborg, Patrizia Accorsi, Heather E. Olson, Bert van der Zwaag, Cathrine E Gjerulfsen, Patrick May, A. A. Sharkov, M. Mahdi Motazacker, Manuela Pendziwiat, Richard J. Leventer, Anna Jansen, Lucio Giordano, Holger Lerche, Carla Marini, Karl Martin Klein, Eva H. Brilstra, Ahmed Eltokhi, Ethan M. Goldberg, Walid Fazeli, Rikke S. Møller, Dorota Hoffman-Zacharska, Michael Alber, Susanne Ruf, Jennifer L. Howe, Phillis Lakeman, Josua Kegele, Katherine L. Helbig, Marga Buzatu, Alice W Ho, Jan Benda, Ilona Krey, Marion Gérard, Sara Matricardi, Thomas U. Mayer, Philippe Gelisse, Jong M. Rho, Johannes R. Lemke, Pierangelo Veggiotti, Tobias Loddenkemper, Gaetan Lesca, Ulrike B. S. Hedrich, Silvana Franceschetti, Elena Gardella, Irina Mishina, María Vaccarezza, Timo Roser
المساهمون: Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Neuroprotection & Neuromodulation, Pediatrics, Human Genetics, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development, Human genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain : a journal of neurology, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Brain, 145(9), 2991-3009. Oxford University Pressمصطلحات موضوعية: medicine.medical_specialty, SCN8A, Gastroenterology, Epilepsy, Sodium channel blocker, Neurodevelopmental disorder, Seizures, Intellectual Disability, Internal medicine, medicine, Humans, Missense mutation, genetics, Generalized epilepsy, Genetic Association Studies, Benign familial infantile epilepsy, Generalized, business.industry, Infant, personalized medicine, Prognosis, medicine.disease, Phenotype, Settore MED/39 - Neuropsichiatria Infantile, NAV1.6 Voltage-Gated Sodium Channel, Mutation, epilepsy, Original Article, Epilepsy, Generalized, Human medicine, Neurology (clinical), Age of onset, business, Epileptic Syndromes, Sodium Channel Blockers
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d3de186f73a35fb1500a80403bc648
https://doi.org/10.1093/brain/awab321 -
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المؤلفون: Anke J. Woudstra, Lieke M. van den Heuvel, Elsbeth H. van Vliet‐Lachotzki, Wybo Dondorp, Phillis Lakeman, Lotte Haverman, Irene M. van Langen, Lidewij Henneman
المساهمون: Health Psychology Research (HPR), Human Genetics, ARD - Amsterdam Reproduction and Development, Child and Adolescent Psychiatry & Psychosocial Care, APH - Mental Health, APH - Methodology, APH - Digital Health, Human genetics, Amsterdam Reproduction & Development (AR&D), APH - Personalized Medicine, APH - Quality of Care, Metamedica, RS: GROW - R4 - Reproductive and Perinatal Medicine, RS: CAPHRI - R6 - Promoting Health & Personalised Care
المصدر: Prenatal Diagnosis, 42(9), 1201-1210. Wiley-Blackwell
Woudstra, A J, van den Heuvel, L M, van Vliet-Lachotzki, E H, Dondorp, W, Lakeman, P, Haverman, L, van Langen, I M & Henneman, L 2022, ' Views of patients and parents of children with genetic disorders on population-based expanded carrier screening ', Prenatal Diagnosis, vol. 42, no. 9, pp. 1201-1210 . https://doi.org/10.1002/pd.6200
Prenatal diagnosis, 42(9), 1201-1210. John Wiley and Sons Ltd
Prenatal Diagnosis, 42(9), 1201-1210. John Wiley and Sons Ltd
Prenatal Diagnosis, 42(9), 1201-1210. Wileyمصطلحات موضوعية: Parents, Genetic Carrier Screening, Surveys and Questionnaires, Humans, Mass Screening, Obstetrics and Gynecology, Family, DOWN-SYNDROME, ATTITUDES, Child, Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: Lieke M van den Heuvel, Anke J Woudstra, Sanne van der Hout, Suze Jans, Tjerk Wiersma, Wybo Dondorp, Erwin Birnie, Phillis Lakeman, Lidewij Henneman, Mirjam Plantinga, Irene M van Langen
المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, RS: CAPHRI - R6 - Promoting Health & Personalised Care, Metamedica
المصدر: Family Practice. Oxford University Press
مصطلحات موضوعية: primary care professionals, GYNECOLOGISTS, expanded carrier screening, PRECONCEPTION CARE, OBSTETRICIANS, GENETIC-COUNSELORS, midwives, PERSPECTIVES, general practitioners, IMPLEMENTATION, focus groups, ATTITUDES, views, Family Practice
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a044675f8a766dd137838f1c53b32198
https://cris.maastrichtuniversity.nl/en/publications/8ad8a8ca-5c0f-469e-b7b9-8f8bdacbb595 -
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المؤلفون: Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A. Skinner, Jack Reilly, Jennifer Kerkhof, Cynthia J. Curry, Patrick S. Tarpey, Stephen P. Robertson, Isabelle Maystadt, Boris Keren, Joanne W. Dixon, Cindy Skinner, Rachel Stapleton, Lyse Ruaud, Evren Gumus, Phillis Lakeman, Mariëlle Alders, Matthew L. Tedder, Charles E. Schwartz, Michael J. Friez, Bekim Sadikovic, Roger E. Stevenson
المساهمون: Clinical Genetics, ACS - Pulmonary hypertension & thrombosis, Amsterdam Reproduction & Development, Human genetics, Amsterdam Reproduction & Development (AR&D), Human Genetics
المصدر: Wang, J, Foroutan, A, Richardson, E, Skinner, S A, Reilly, J, Kerkhof, J, Curry, C J, Tarpey, P S, Robertson, S P, Maystadt, I, Keren, B, Dixon, J W, Skinner, C, Stapleton, R, Ruaud, L, Gumus, E, Lakeman, P, Alders, M, Tedder, M L, Schwartz, C E, Friez, M J, Sadikovic, B & Stevenson, R E 2022, ' Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 ', European Journal of Human Genetics, vol. 30, no. 4, pp. 420-427 . https://doi.org/10.1038/s41431-021-01018-1
European journal of human genetics. Nature Publishing Group
European Journal of Human Genetics, 30(4), 420-427. Nature Publishing Group
Eur J Hum Genet
European journal of human genetics, 30(4), 420-427. Nature Publishing Groupمصطلحات موضوعية: DNA-Binding Proteins, Genes, X-Linked, Intellectual Disability, Genetics, Humans, Female, Autistic Disorder, DNA Methylation, Genetics (clinical), Article
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المؤلفون: Lidewij Henneman, Ivy van Dijke, Phillis Lakeman, Lotte Haverman, Thirsa Conijn, Frits A. Wijburg
المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Pediatric surgery, APH - Personalized Medicine, APH - Quality of Care, Graduate School, ARD - Amsterdam Reproduction and Development, Child and Adolescent Psychiatry & Psychosocial Care, APH - Mental Health, APH - Methodology, Human Genetics, Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: Journal of Community Genetics, 12(3), 311-323. Springer Verlag
Journal of Community Genetics
Conijn, T, van Dijke, I, Haverman, L, Lakeman, P, Wijburg, F A & Henneman, L 2021, ' Preconception expanded carrier screening : a focus group study with relatives of mucopolysaccharidosis type III patients and the general population ', Journal of Community Genetics, vol. 12, no. 3, pp. 311-323 . https://doi.org/10.1007/s12687-021-00519-2
Journal of community genetics, 12(3), 311-323. Springer Verlagمصطلحات موضوعية: medicine.medical_specialty, Epidemiology, media_common.quotation_subject, Population, Mucopolysaccharidosis type III, 03 medical and health sciences, 0302 clinical medicine, Genetic screening, medicine, Full disclosure, Expanded carrier screening, education, Genetics (clinical), media_common, 0303 health sciences, education.field_of_study, 030219 obstetrics & reproductive medicine, Public health, 030305 genetics & heredity, Public Health, Environmental and Occupational Health, Focus groups, Focus group, Test (assessment), Feeling, Family medicine, Original Article, Qualitative study, Psychology, Qualitative research, Perspectives
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المؤلفون: Helger G. Yntema, Christine E. M. de Die-Smulders, Suzanne C E H Sallevelt, Alexander P.A. Stegmann, Han G. Brunner, Bart de Koning, Melanie van Esch, Crool Velter, Masoud Zamani Esteki, Anja Steyls, Arthur van den Wijngaard, Aimee D C Paulussen, Phillis Lakeman, Christian Gilissen
المساهمون: Human Genetics, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), Klinische Genetica, MUMC+: DA Klinische Genetica (5)
المصدر: Genetics in Medicine
Genetics in medicine, 23(6), 1125-1136. Lippincott Williams and Wilkins
Genetics in Medicine, 23(6), 1125-1136. Nature Publishing Group
Genetics in Medicine, 23, 6, pp. 1125-1136
Genetics in Medicine, 23, 1125-1136مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, Heterozygote, Offspring, Genomics, 030105 genetics & heredity, Carrier testing, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, 03 medical and health sciences, Consanguinity, 0302 clinical medicine, Exome Sequencing, medicine, Exome, Family, Genetics (clinical), Exome sequencing, 030219 obstetrics & reproductive medicine, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Molecular pathology, business.industry, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Clinical Practice, Medical genetics, business
وصف الملف: application/pdf
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المؤلفون: Thirsa Conijn, Stephanie C. M. Nijmeijer, Lidewij Henneman, Lotte Haverman, Phillis Lakeman, Frits A. Wijburg
المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Pediatric surgery, Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases, Graduate School, Human Genetics, Paediatric Psychosocial Care, APH - Mental Health, APH - Methodology
المصدر: European Journal of Human Genetics, 28(10), 1331-1340. Nature Publishing Group
European journal of human genetics, 28(10), 1331-1340. Nature Publishing Group
European Journal of Human Genetics
Nijmeijer, S C M, Conijn, T, Lakeman, P, Henneman, L, Wijburg, F A & Haverman, L 2020, ' Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening ', European Journal of Human Genetics, vol. 28, no. 10, pp. 1331-1340 . https://doi.org/10.1038/s41431-020-0648-2مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Health Knowledge, Attitudes, Practice, Genetic counseling, Population, Genetic Counseling, Computer-assisted web interviewing, Mucopolysaccharidosis type III, Article, 03 medical and health sciences, Mucopolysaccharidosis III, Population screening, Genetics, medicine, Experiential knowledge, Humans, Family, education, Genetics (clinical), Reference group, Genetic testing, Aged, Aged, 80 and over, Preventive medicine, 0303 health sciences, Pregnancy, education.field_of_study, medicine.diagnostic_test, business.industry, Genetic Carrier Screening, 030305 genetics & heredity, Middle Aged, medicine.disease, Health Literacy, Family medicine, Female, business
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المؤلفون: Gajja S. Salomons, Peter G. J. Nikkels, Elisabeth van Leeuwen, Johanna I.P. de Vries, George L. Burchell, Quinten Waisfisz, Jill K Tjon, Gita M. B. Tan-Sindhunata, Marjan M. Weiss, I. Linskens, Phillis Lakeman, Patrick J P van der Voorn, Bloeme J. Van Der Knoop
المساهمون: Human Genetics, Obstetrics and Gynaecology, Amsterdam Reproduction & Development (AR&D), Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience, Obstetrics and gynaecology, Amsterdam Movement Sciences - Restoration and Development, Human genetics, Clinical chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, AMS - Rehabilitation & Development
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine, 9, 1-23
Molecular Genetics & Genomic Medicine, 9, 11, pp. 1-23
Molecular genetics and genomic medicine, 9(11):e1827. John Wiley and Sons Inc.
Molecular Genetics and Genomic Medicine, 9(11):e1827. John Wiley and Sons Inc.
Tjon, J K, Lakeman, P, van Leeuwen, E, Waisfisz, Q, Weiss, M M, Tan-Sindhunata, G M B, Nikkels, P G J, van der Voorn, P J P, Salomons, G S, Burchell, G L, Linskens, I H, van der Knoop, B J & de Vries, J I P 2021, ' Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review ', Molecular Genetics and Genomic Medicine, vol. 9, no. 11, e1827 . https://doi.org/10.1002/mgg3.1827
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: medicine.medical_specialty, Fibrin deposition, QH426-470, Consanguinity, Fetus, Unknown Significance, Pregnancy, Placenta, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Genetics, Humans, Medicine, Fetal Death, Molecular Biology, Genetics (clinical), Muscle contracture, Genetic testing, Arthrogryposis, Fibrin, Fetal death, medicine.diagnostic_test, business.industry, Obstetrics, Original Articles, Fetal akinesia deformation sequence, medicine.anatomical_structure, embryonic structures, ATP-Binding Cassette Transporters, Female, Original Article, business
وصف الملف: application/pdf
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