المؤلفون: van Eeghen, A M, Stemkens, D, Fernández-Fructuoso, José Ramón, Maruani, A, Hadzsiev, K, van Balkom, I D C

المصدر: ERN ITHACA Guideline Working Group , European Phelan-McDermid syndrome guideline consortium , van Eeghen , A M , Stemkens , D , Fernández-Fructuoso , J R , Maruani , A , Hadzsiev , K & van Balkom , I D C 2023 , ' Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome ' , European journal of medical genetics , vol. 66 , no. 7 , 104747 . https://doi.org/10.1016/j.ejmg.2023.104747Test

مصطلحات موضوعية: Adult, Humans, Child, Consensus, Transition to Adult Care, Chromosome Disorders/diagnosis, Chromosome Deletion, Chromosomes, Human, Pair 22/genetics

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/1610383b-dfea-4f27-9c1b-3248040313dbTest

الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104747Test
https://hdl.handle.net/11370/1610383b-dfea-4f27-9c1b-3248040313dbTest
https://research.rug.nl/en/publications/1610383b-dfea-4f27-9c1b-3248040313dbTest
https://pure.rug.nl/ws/files/749430015/1-s2.0-S1769721223000538-main.pdfTest

المؤلفون: Van Opstal, Diane, van Maarle, Merel C., Lichtenbelt, Klaske, Weiss, Marjan M., Schuring-Blom, Heleen, Bhola, Shama L., Hoffer, Mariette J. V., Huijsdens-van Amsterdam, Karin, Macville, Merryn V., Kooper, Angelique J. A., Faas, Brigitte H. W., Govaerts, Lutgarde, Tan-Sindhunata, Gita M., den Hollander, Nicolette, Feenstra, Ilse, Galjaard, Robert-Jan H., Oepkes, Dick, Ghesquiere, Stijn, Brouwer, Rutger W. W., Beulen, Lean, Bollen, Sander, Elferink, Martin G., Straver, Roy, Henneman, Lidewij, Page-Christiaens, Godelieve C., Sistermans, Erik A.

المصدر: Van Opstal , D , van Maarle , M C , Lichtenbelt , K , Weiss , M M , Schuring-Blom , H , Bhola , S L , Hoffer , M J V , Huijsdens-van Amsterdam , K , Macville , M V , Kooper , A J A , Faas , B H W , Govaerts , L , Tan-Sindhunata , G M , den Hollander , N , Feenstra , I , Galjaard , R-J H , Oepkes , D , Ghesquiere , S , Brouwer , R W W , Beulen , L , Bollen ....

مصطلحات موضوعية: confined placental mosaicism, genome-wide NIPS, noninvasive testing, prenatal screening, trisomy 21, CELL-FREE DNA, PRENATAL-DIAGNOSIS, FOLLOW-UP, MATERNAL MALIGNANCIES, DUTCH LABORATORIES, TERM PLACENTAE, CVS MOSAICISM, FETAL DNA, ANEUPLOIDIES, CONFIRMATION, ANEUPLOIDY, ASSOCIATION, Chromosome Disorders/diagnosis, Trisomy, Humans, DNA Copy Number Variations, Female, Placenta/metabolism, Genomics/methods, Whole Genome Sequencing, Pregnancy, Prenatal Diagnosis/methods, Genetic Testing/methods, Chromosome Aberrations, Pregnancy Outcome

الإتاحة: https://doi.org/10.1038/gim.2017.132Test
https://cris.maastrichtuniversity.nl/en/publications/c3c3d41f-3b7e-48ef-98ba-6a503cde0dbcTest
http://europepmc.org/articles/pmc5929118?pdf=renderTest

المؤلفون: Nilsson, Therese, Ellaithy, Mona, Ibrahim, Muntaser E, Elmula, Imad, Gisselsson Nord, David

المصدر: Läkartidningen. 101(8):5-702

مصطلحات موضوعية: International Cooperation, Human, Medical: education, Genetics, Cytogenetics: economics, Cytogenetics: education, Developing Countries, Cytogenetic Analysis: economics, Medical: economics, Chromosome Disorders: diagnosis, Molecular Diagnostic Techniques: economics, Sudan, Sweden, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

الوصول الحر: https://lup.lub.lu.se/record/121200Test
http://ltarkiv.lakartidningen.se/artNo28107Test

المؤلفون: Shkedi-Rafid, Shiri, Fenwick, Angela, Dheensa, Sandi, Wellesley, Diana, Lucassen, Anneke M

المصدر: Shkedi-Rafid , S , Fenwick , A , Dheensa , S , Wellesley , D & Lucassen , A M 2016 , ' What results to disclose, when, and who decides? Healthcare professionals' views on prenatal chromosomal microarray analysis ' , Prenatal Diagnosis , vol. 36 , no. 3 , pp. 252-9 . https://doi.org/10.1002/pd.4772Test

مصطلحات موضوعية: Adult, Age of Onset, Attitude of Health Personnel, Choice Behavior, Chromosome Disorders/diagnosis, Disclosure, Female, Humans, Male, Microarray Analysis, Pregnancy, Prenatal Diagnosis/methods, Professional-Patient Relations, Surveys and Questionnaires, Time Factors, Uncertainty

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/pd.4772Test
https://hdl.handle.net/1983/9d54eff6-6524-4843-b74b-122ae64f9d69Test
https://research-information.bris.ac.uk/en/publications/9d54eff6-6524-4843-b74b-122ae64f9d69Test
https://research-information.bris.ac.uk/ws/files/177212520/What_results_to_disclose_when_and_who_decides_Heal.pdfTest

المؤلفون: Utskarpen, Audrun

المصدر: Genialt. 24(1):8

المؤلفون: Holmstrup, Louise Stig, Ambye, Louise, Sörensen, Ateen, Stener Jörgensen, Finn

المصدر: Månedsskrift for Almen Praksis. 93(3):232

المساهمون: College of Medicine, Dept. of Laboratory Medicine, John Hoon Rim, Hee Jung Chung, Saeam Shin, Seo-Jin Park, Jong Rak Choi, Park, Seo Jin, Shin, Sae Am, Rim, John Hoon, Chung, Hee Jung, Choi, Jong Rak

مصطلحات موضوعية: Asian Continental Ancestry Group, Cafe-au-Lait Spots/complications, Cafe-au-Lait Spots/diagnosis, Child, Preschool, Chromosome Disorders/complications, Chromosome Disorders/diagnosis, Chromosomes, Human, Pair 15, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Male, Republic of Korea, Skin/pathology

العلاقة: ANNALS OF LABORATORY MEDICINE; J00164; OAK-2015-07391; https://ir.ymlib.yonsei.ac.kr/handle/22282913/157284Test; T201506151; ANNALS OF LABORATORY MEDICINE, Vol.35(4) : 474-476, 2015

الإتاحة: https://doi.org/10.3343/alm.2015.35.4.474Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/157284Test

المؤلفون: Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D.W., Bergmann, C., Borry, P., Chitty, L.S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H.C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjærg, L., van El, C.G., Cornel, M.C.

المساهمون: European Society of Human Genetics, American Society of Human Genetics

المصدر: European Journal of Human Genetics : Ejhg, vol. 23, no. 11, pp. 1438-1450

مصطلحات موضوعية: Aneuploidy, Chromosome Disorders/diagnosis, Chromosome Disorders/genetics, Down Syndrome/diagnosis, Down Syndrome/genetics, Female, Genetic Counseling, Humans, Pregnancy, Prenatal Diagnosis, Trisomy/genetics, Ultrasonography, Prenatal

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25782669; info:eu-repo/semantics/altIdentifier/eissn/1476-5438; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_1EB697D3CB960; https://serval.unil.ch/notice/serval:BIB_1EB697D3CB96Test; urn:issn:1018-4813; https://serval.unil.ch/resource/serval:BIB_1EB697D3CB96.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1EB697D3CB960Test

الإتاحة: https://doi.org/10.1038/ejhg.2015.57Test
https://serval.unil.ch/notice/serval:BIB_1EB697D3CB96Test
https://serval.unil.ch/resource/serval:BIB_1EB697D3CB96.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_1EB697D3CB960Test

المؤلفون: Osório, JMA, Rodríguez-Herreros, B., Romascano, D., Junod, V., Habegger, A., Pain, A., Richetin, S., Yu, P., Isidor, B., Van Maldergem, L., Pons, L., Manificat, S., Chabane, N., Jequier Gygax, M., Maillard, A.M.

المصدر: Molecular autism, vol. 12, no. 1, pp. 8

مصطلحات موضوعية: Autism Spectrum Disorder/diagnosis, Autism Spectrum Disorder/etiology, Autism Spectrum Disorder/physiopathology, Autistic Disorder/diagnosis, Autistic Disorder/genetics, Autistic Disorder/physiopathology, Child, Preschool, Chromosome Deletion, Chromosome Disorders/diagnosis, Chromosome Disorders/genetics, Chromosome Disorders/physiopathology, Chromosomes, Human, Pair 16/genetics, Cognition, DNA Copy Number Variations, Female, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Individuality, Intellectual Disability/diagnosis, Intellectual Disability/genetics, Intellectual Disability/physiopathology, Male, Mutation, Phenotype, Taste Perception, Touch Perception

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33546725; info:eu-repo/semantics/altIdentifier/eissn/2040-2392; https://serval.unil.ch/notice/serval:BIB_8C260339EF96Test

الإتاحة: https://doi.org/10.1186/s13229-020-00410-wTest
https://serval.unil.ch/notice/serval:BIB_8C260339EF96Test

المؤلفون: Vogel, Ida, Vestergaard, Else Marie, Lildballe, Dorte Launtoft, Christensen, Rikke, Hoseth, Gerd Eva, Petersen, Astrid Christine, Bogaard, Pauline, Sørensen, Anne Nødgaard

المصدر: Vogel , I , Vestergaard , E M , Lildballe , D L , Christensen , R , Hoseth , G E , Petersen , A C , Bogaard , P & Sørensen , A N 2020 , ' Placental mosaicism in the era of chromosomal microarrays ' , European Journal of Medical Genetics , vol. 63 , no. 4 , 103778 . https://doi.org/10.1016/j.ejmg.2019.103778Test

مصطلحات موضوعية: Chorionic villus sampling, Mosaicism, Placenta, Prenatal diagnosis, Structural chromosomal abnormality, Chromosome Disorders/diagnosis, Chorionic Villi Sampling/methods, Humans, Middle Aged, Placenta/metabolism, Gestational Age, Pregnancy, Amniocentesis/methods, Female, Fetus

العلاقة: https://pure.au.dk/portal/en/publications/cc1fd783-d8ad-4fd8-92e3-8c326e0f5672Test

الإتاحة: https://doi.org/10.1016/j.ejmg.2019.103778Test
https://pure.au.dk/portal/en/publications/cc1fd783-d8ad-4fd8-92e3-8c326e0f5672Test