المؤلفون: Scheffer-Rath, Mirjam E.A., Veenstra-Knol, Hermine E., Boot, Annemieke M.

المصدر: Scheffer-Rath , M E A , Veenstra-Knol , H E & Boot , A M 2023 , ' A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay ' , Bone reports , vol. 19 , 101699 . https://doi.org/10.1016/j.bonr.2023.101699Test

مصطلحات موضوعية: Brachydactyly type E, Developmental delay, Disproportionate short stature, PTH-related peptide, PTHLH

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/5248e448-13cf-4657-88e7-b62b676cff96Test

الإتاحة: https://doi.org/10.1016/j.bonr.2023.101699Test
https://hdl.handle.net/11370/5248e448-13cf-4657-88e7-b62b676cff96Test
https://research.rug.nl/en/publications/5248e448-13cf-4657-88e7-b62b676cff96Test
https://pure.rug.nl/ws/files/781736830/1-s2.0-S2352187223000475-main.pdfTest

المؤلفون: Remmelzwaal, P Christian, Verhagen, Martijn V, Jongbloed, Jan D H, van den Akker, Peter C, Veenstra-Knol, Hermine E, Hitzert, Marrit M

المصدر: Remmelzwaal , P C , Verhagen , M V , Jongbloed , J D H , van den Akker , P C , Veenstra-Knol , H E & Hitzert , M M 2023 , ' Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations : A case report ' , American Journal of Medical Genetics. Part A , vol. 191 , no. 9 , pp. 2440-2445 . https://doi.org/10.1002/ajmg.a.63316Test

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/27070643-a790-4cee-8aad-3c1ef23981d9Test

الإتاحة: https://doi.org/10.1002/ajmg.a.63316Test
https://hdl.handle.net/11370/27070643-a790-4cee-8aad-3c1ef23981d9Test
https://research.rug.nl/en/publications/27070643-a790-4cee-8aad-3c1ef23981d9Test
https://pure.rug.nl/ws/files/788187608/American_J_of_Med_Genetics_Pt_A_-_2023_-_Remmelzwaal.pdfTest

المؤلفون: Dingemans, Alexander J. M., Truijen, Kim M. G., Kim, Jung-Hyun, Alacam, Zahide, Faivre, Laurence, Collins, Kathleen M., Gerkes, Erica H., van Haelst, Mieke, van de Laar, Ingrid M. B. H., Lindstrom, Kristin, Nizon, Mathilde, Pauling, James, Heropolitanska-Pliszka, Edyta, Plomp, Astrid S., Racine, Caroline, Sachdev, Rani, Sinnema, Margje, Skranes, Jon, Veenstra-Knol, Hermine E., Verberne, Eline A., Vulto-van Silfhout, Anneke T., Wilsterman, Marlon E. F., Ahn, Eun-Young Erin, de Vries, Bert B. A., Vissers, Lisenka E. L. M.

المصدر: Dingemans , A J M , Truijen , K M G , Kim , J-H , Alacam , Z , Faivre , L , Collins , K M , Gerkes , E H , van Haelst , M , van de Laar , I M B H , Lindstrom , K , Nizon , M , Pauling , J , Heropolitanska-Pliszka , E , Plomp , A S , Racine , C , Sachdev , R , Sinnema , M , Skranes , J , Veenstra-Knol , H E , Verberne , E A , Vulto-van Silfhout , A ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

العلاقة: https://pure.eur.nl/en/publications/039870f1-f627-4e9d-b8ed-ad608b52728bTest

الإتاحة: https://doi.org/10.1038/s41431-021-00960-4Test
https://pure.eur.nl/en/publications/039870f1-f627-4e9d-b8ed-ad608b52728bTest
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=eur_pure&SrcAuth=WosAPI&KeyUT=WOS:000695759400001&DestLinkType=FullRecord&DestApp=WOSTest
http://www.scopus.com/inward/record.url?scp=85115199905&partnerID=8YFLogxKTest

المؤلفون: Koolen, David A, Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E, Conta, Jessie H, Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A, Winesett, Heather M, Chung, Wendy K, Dalton, Marguerite, Dimova, Petia S, Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z, Saal, Howard M, Hehir-Kwa, Jayne Y, Willemsen, Marjolein H, Ockeloen, Charlotte W, Jongmans, Marjolijn C, Van der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S, Kant, Sarina G, Gerkes, Erica H, Firth, Helen V, Õunap, Katrin, Bird, Lynne M, Masser-Frye, Diane, Friedman, Jennifer R, Sokunbi, Modupe A, Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K, McGaughran, Julie, Coe, Bradley P, Flórez, Jesús, Nadif Kasri, Nael, Brunner, Han G, Thompson, Elizabeth M, Gecz, Jozef, Romano, Corrado, Eichler, Evan E, de Vries, Bert BA

المصدر: European Journal of Human Genetics. 24(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Pediatric, Neurosciences, Congenital Structural Anomalies, Brain Disorders, Clinical Research, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Congenital, Abnormalities, Multiple, Adolescent, Adult, Child, Chromosome Deletion, Chromosomes, Human, Pair 17, Female, Humans, Intellectual Disability, Male, Middle Aged, Nuclear Proteins, Phenotype, Polymorphism, Single Nucleotide, DDD Study, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6bw6150rTest

المؤلفون: Goodman, Lindsey D., Cope, Heidi, Nil, Zelha, Ravenscroft, Thomas A., Charng, Wu-Lin, Lu, Shenzhao, Tien, An-Chi, Pfundt, Rolph, Koolen, David A., Haaxma, Charlotte A., Veenstra-Knol, Hermine E., Wassink-Ruiter, Jolien S. Klein, Wevers, Marijke R., Jones, Melissa, Walsh, Laurence E., Klee, Victoria H., Theunis, Miel, Legius, Eric, Steel, Dora, Barwick, Katy E. S., Kurian, Manju A., Mohammad, Shekeeb S., Dale, Russell C., Terhal, Paulien A., van Binsbergen, Ellen, Kirmse, Brian, Robinette, Bethany, Cogne, Benjamin, Isidor, Bertrand, Grebe, Theresa A., Kulch, Peggy, Hainline, Bryan E., Sapp, Katherine, Morava, Eva, Klee, Eric W., Macke, Erica L., Trapane, Pamela, Spencer, Christopher, Si, Yue, Begtrup, Amber, Moulton, Matthew J., Dutta, Debdeep, Kanca, Oguz, Wangler, Michael F., Yamamoto, Shinya, Bellen, Hugo J., Tan, Queenie K-G

المصدر: Undiagnosed Dis Network , Goodman , L D , Cope , H , Nil , Z , Ravenscroft , T A , Charng , W-L , Lu , S , Tien , A-C , Pfundt , R , Koolen , D A , Haaxma , C A , Veenstra-Knol , H E , Wassink-Ruiter , J S K , Wevers , M R , Jones , M , Walsh , L E , Klee , V H , Theunis , M , Legius , E , Steel , D , Barwick , K E S , Kurian , M ....

مصطلحات موضوعية: NUCLEAR-IMPORT, DE-NOVO, MUSHROOM BODY, GAL4 SYSTEM, C-FOS, TRANSPORTIN, MUTATIONS, PROTEINS, COMPLEX, EXPRESSION

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/390808ba-6c5d-4c60-b86b-8f0d24b5804eTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.06.019Test
https://hdl.handle.net/11370/390808ba-6c5d-4c60-b86b-8f0d24b5804eTest
https://research.rug.nl/en/publications/390808ba-6c5d-4c60-b86b-8f0d24b5804eTest
https://pure.rug.nl/ws/files/202793490/1_s2.0_S0002929721002676_main.pdfTest

المؤلفون: Stolz, Jacob R., Foote, Kendall M., Veenstra-Knol, Hermine E., Pfundt, Rolph, ten Broeke, Sanne W., de Leeuw, Nicole, Roht, Laura, Pajusalu, Sander, Part, Reelika, Rebane, Ionella, Õunap, Katrin, Stark, Zornitza, Kirk, Edwin P., Lawson, John A., Lunke, Sebastian, Christodoulou, John, Louie, Raymond J., Rogers, R. Curtis, Davis, Jessica M., Innes, A. Micheil, Wei, Xing-Chang, Keren, Boris, Mignot, Cyril, Lebel, Robert Roger, Sperber, Steven M., Sakonju, Ai, Dosa, Nienke, Barge-Schaapveld, Daniela Q. C. M., Peeters-Scholte, Cacha M. P. C. D., Ruivenkamp, Claudia A. L., van Bon, Bregje W., Kennedy, Joanna, Low, Karen J., Ellard, Sian, Pang, Lewis, Junewick, Joseph J., Mark, Paul R., Carvill, Gemma L., Swanson, Geoffrey T.

المصدر: Stolz , J R , Foote , K M , Veenstra-Knol , H E , Pfundt , R , ten Broeke , S W , de Leeuw , N , Roht , L , Pajusalu , S , Part , R , Rebane , I , Õunap , K , Stark , Z , Kirk , E P , Lawson , J A , Lunke , S , Christodoulou , J , Louie , R J , Rogers , R C , Davis , J M , Innes , A M , Wei , X-C , Keren , B ....

مصطلحات موضوعية: MOSSY-FIBER SYNAPSES, GLUTAMATE-RECEPTOR-6 GENE, LURCHER MUTATION, GLUTAMATE, ACTIVATION, ASSOCIATION, MATURATION, AUTISM, EXPRESSION, VARIANTS

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/e571add2-0d7b-440f-8547-5b406f97bea0Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.07.007Test
https://hdl.handle.net/11370/e571add2-0d7b-440f-8547-5b406f97bea0Test
https://research.rug.nl/en/publications/e571add2-0d7b-440f-8547-5b406f97bea0Test
https://pure.rug.nl/ws/files/181284387/1_s2.0_S0002929721002755_main.pdfTest

المؤلفون: Goodman, Lindsey D, Cope, Heidi, Nil, Zelha, Ravenscroft, Thomas A, Charng, Wu-Lin, Lu, Shenzhao, Tien, An-Chi, Pfundt, Rolph, Koolen, David A, Haaxma, Charlotte A, Veenstra-Knol, Hermine E, Wassink-Ruiter, Jolien S, Wevers, Marijke R, Jones, Melissa, Walsh, Laurence E, Klee, Victoria H, Theunis, Miel, Legius, Eric, Steel, Dora, Barwick, Katy E, Kurian, Manju A, Mohammad, Shekeeb S, Dale, Russell C, Terhal, Paulien A, van Binsbergen, Ellen, Kirmse, Brian, Robinette, Bethany, Cogné, Benjamin, Isidor, Bertrand, Grebe, Theresa A, Kulch, Peggy, Hainline, Bryan E

المصدر: Translational Neuroscience

مصطلحات موضوعية: Drosophila, Importin-3, Karyopherin-β2b, TNPO1, TNPO2, Transportin, global developmental delays, intellectual disability, nucleocytoplasmic shuttling, rare disease, Alleles, Amino Acid Sequence, Animals, Developmental Disabilities (genetics, metabolism, pathology), Drosophila Proteins (antagonists & inhibitors, genetics, metabolism), Drosophila melanogaster (genetics, growth & development, Eye Diseases, Hereditary (genetics, Female, Gene Dosage, Gene Expression Regulation, Developmental, Genome, Human, Humans

العلاقة: https://scholar.barrowneuro.org/neurobiology/2013Test

الإتاحة: https://scholar.barrowneuro.org/neurobiology/2013Test

المؤلفون: Rabin, Rachel, Radmanesh, Alireza, Glass, Ian A., Dobyns, William B., Aldinger, Kimberly A., Shieh, Joseph T., Romoser, Shelby, Bombei, Hannah, Dowsett, Leah, Trapane, Pamela, Bernat, John A., Baker, Janice, Mendelsohn, Nancy J., Popp, Bernt, Siekmeyer, Manuela, Sorge, Ina, Sansbury, Francis Hugh, Watts, Patrick, Foulds, Nicola C., Burton, Jennifer, Hoganson, George, Hurst, Jane A., Menzies, Lara, Osio, Deborah, Kerecuk, Larissa, Cobben, Jan M., Jizi, Khadije, Jacquemont, Sebastien, Belanger, Stacey A., Lohner, Katharina, Veenstra-Knol, Hermine E., Lemmink, Henny H., Keller-Ramey, Jennifer, Wentzensen, Ingrid M., Punj, Sumit, McWalter, Kirsty, Lenberg, Jerica, Ellsworth, Katarzyna A., Radtke, Kelly, Akbarian, Schahram, Pappas, John

المصدر: Rabin , R , Radmanesh , A , Glass , I A , Dobyns , W B , Aldinger , K A , Shieh , J T , Romoser , S , Bombei , H , Dowsett , L , Trapane , P , Bernat , J A , Baker , J , Mendelsohn , N J , Popp , B , Siekmeyer , M , Sorge , I , Sansbury , F H , Watts , P , Foulds , N C , Burton , J , Hoganson , G , Hurst , J A , Menzies , ....

مصطلحات موضوعية: clinical genetics, genotype phenotype, histone modification, neurodevelopmental, SETD2, AUTISM, METHYLATION, MUTATIONS, IDENTIFICATION, HYPB/SETD2, MARK

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/da1c43a6-8e82-46d3-a42e-ee21f8eb9150Test

الإتاحة: https://doi.org/10.1002/ajmg.a.61724Test
https://hdl.handle.net/11370/da1c43a6-8e82-46d3-a42e-ee21f8eb9150Test
https://research.rug.nl/en/publications/da1c43a6-8e82-46d3-a42e-ee21f8eb9150Test
https://pure.rug.nl/ws/files/133476105/Genotype_phenotype_correlation_at_codon_1740_of_SETD2.pdfTest

المؤلفون: Wijnen, Iris G. M., Veenstra-Knol, Hermine E., Vansenne, Fleur, Gerkes, Erica H., de Koning, Tom, Vos, Yvonne J., Tijssen, Marina A. J., Sival, Deborah, Darin, Niklas, Vanhoutte, Els K., Oosterloo, Mayke, Pennings, Maartje, van de Warrenburg, Bart P., Kamsteeg, Erik-Jan

المصدر: Wijnen , I G M , Veenstra-Knol , H E , Vansenne , F , Gerkes , E H , de Koning , T , Vos , Y J , Tijssen , M A J , Sival , D , Darin , N , Vanhoutte , E K , Oosterloo , M , Pennings , M , van de Warrenburg , B P & Kamsteeg , E-J 2020 , ' De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability ' , EJHG , vol. 28 , no. 6 , pp. 763-769 . ....

مصطلحات موضوعية: TRANSCRIPTION, PARAPLEGIAS, MUTATIONS

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/e7a29f86-9748-4d21-8320-c8ebd8888c44Test

الإتاحة: https://doi.org/10.1038/s41431-020-0600-5Test
https://hdl.handle.net/11370/e7a29f86-9748-4d21-8320-c8ebd8888c44Test
https://research.rug.nl/en/publications/e7a29f86-9748-4d21-8320-c8ebd8888c44Test
https://pure.rug.nl/ws/files/120577309/De_novo_variants_in_CAMTA1_cause_a_syndrome_variably_associated_with_spasticity_ataxia_and_intellectual_disability.pdfTest

المؤلفون: Remmelzwaal, P. Christian, Verhagen, Martijn V., Jongbloed, Jan D. H., van den Akker, Peter C., Veenstra‐Knol, Hermine E., Hitzert, Marrit M.

المصدر: American Journal of Medical Genetics. Part A; Sep2023, Vol. 191 Issue 9, p2440-2445, 6p