المؤلفون: Ullah, Farid, Salpietro, Vincenzo, Coghlan, Meghan, Sharma, Abhineet, Mercier, Angelique, McRae, Anne, Houlden, Henry, Davis, Erica

المصدر: Genetics in Medicine Open ; volume 2, page 101582 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101582
https://api.elsevier.com/content/article/PII:S2949774424007283?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424007283?httpAccept=text/plain

المؤلفون: Quadri, Allegra, Heald, Cassandra, McRae, Anne, Baker, Joshua

المصدر: Genetics in Medicine Open ; volume 2, page 101339 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101339
https://api.elsevier.com/content/article/PII:S2949774424004850?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424004850?httpAccept=text/plain

المؤلفون: McRae, Anne M., Duncan, Jaime, Drackley, Andy, Ing, Alexander, Allegretti, Valerie, Raski, Carolyn R., Mercier, Angelique, Prada, Carlos E., Jurgensmeyer, Sarah

المصدر: American Journal of Medical Genetics. Part A; Jan2025, Vol. 197 Issue 1, p1-8, 8p

المؤلفون: Saffari, Afshin, Lau, Tracy, Tajsharghi, Homa, Karimiani, Ehsan Ghayoor, Kariminejad, Ariana, Efthymiou, Stephanie, Zifarelli, Giovanni, Sultan, Tipu, Toosi, Mehran Beiraghi, Sedighzadeh, Sahar, Siu, Victoria Mok, Ortigoza-Escobar, Juan Darío, AlShamsi, Aisha M, Ibrahim, Shahnaz, Al-Sannaa, Nouriya Abbas, Al-Hertani, Walla, Sandra, Whalen, Tarnopolsky, Mark, Alavi, Shahryar, Li, Chumei, Day-Salvatore, Debra-Lynn, Martínez-González, Maria Jesús, Levandoski, Kristin M, Bedoukian, Emma, Madan-Khetarpal, Suneeta, Idleburg, Michaela J, Menezes, Minal Juliet, Siddharth, Aishwarya, Platzer, Konrad, Oppermann, Henry, Smitka, Martin, Collins, Felicity, Lek, Monkol, Shahrooei, Mohmmad, Ghavideldarestani, Maryam, Herman, Isabella, Rendu, John, Faure, Julien, Baker, Janice, Bhambhani, Vikas, Calderwood, Laurel, Akhondian, Javad, Imannezhad, Shima, Mirzadeh, Hanieh Sadat, Hashemi, Narges, Doosti, Mohammad, Safi, Mojtaba, Ahangari, Najmeh, Torbati, Paria Najarzadeh, Abedini, Soheila, Salpietro, Vincenzo, Gulec, Elif Yilmaz, Eshaghian, Safieh, Ghazavi, Mohammadreza, Pascher, Michael T, Vogel, Marina, Abicht, Angela, Moutton, Sébastien, Bruel, Ange-Line, Rieubland, Claudine, Gallati, Sabina, Strom, Tim M, Lochmüller, Hanns, Mohammadi, Mohammad Hasan, Alvi, Javeria Raza, Zackai, Elaine H, Keena, Beth A, Skraban, Cara M, Berger, Seth I, Andrew, Hallie E, Rahimian, Elham, Morrow, Michelle M, Wentzensen, Ingrid M, Millan, Francisca, Henderson, Lindsay B, Dafsari, Hormos Salimi, Jungbluth, Heinz, Gomez-Ospina, Natalia, McRae, Anne, Peter, Merlene, Veltra, Danai, Marinakis, Nikolaos M, Sofocleous, Christalena, Ashrafzadeh, Farah, Pehlivan, Davut, Lemke, Johannes R, Melki, Judith, Benezit, Audrey, Bauer, Peter, Weis, Denisa, Lupski, James R, Senderek, Jan, Christodoulou, John, Chung, Wendy K, Goodchild, Rose, Offiah, Amaka C, Moreno-De-Luca, Andres, Mohnish, Suri, Ebrahimi-Fakhari, Darius, Houlden, Henry, Maroofian, Reza

المصدر: Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Ortigoza-Escobar, Juan Darío; AlShamsi, Aisha M; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; . (2023). The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology, 146(8), pp. 3273-3288. Oxford University Press 10.1093/brain/awad039

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/178597/

الاتاحة: https://boris.unibe.ch/178597/1/awad039.pdf
https://boris.unibe.ch/178597/

المؤلفون: Peter, Merlene, Hickey, Rachel, Moran, Miguel, McRae, Anne, Charrow, Joel, Baker, Joshua, Prada, Carlos

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100436 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100436
https://api.elsevier.com/content/article/PII:S2949774423004363?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423004363?httpAccept=text/plain

المؤلفون: Drackley, Andy, Rathbun, Pamela, Ing, Alexander, Wlodaver, Alissa, Baker, Joshua, Hickey, Rachel, Peter, Merlene, McRae, Anne, Jurgensmeyer, Sarah, Lee Yap, Kai, Prada, Carlos

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100501 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100501
https://api.elsevier.com/content/article/PII:S2949774423005010?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423005010?httpAccept=text/plain

المؤلفون: Qebibo, Leila, Davakan, Amaël, Nesson-Dauphin, Mathilde, Boulali, Najlae, Siquier-Pernet, Karine, Afenjar, Alexandra, Amiel, Jeanne, Bartholdi, Deborah, Barth, Magalie, Blondiaux, Eléonore, Cristian, Ingrid, Frazier, Zoe, Goldenberg, Alice, Good, Jean-Marc, Salussolia, Catherine Lourdes, Sahin, Mustafa, Mccullagh, Helen, Mcdonald, Kimberly, Mcrae, Anne, Morrison, Jennifer, Pinner, Jason, Shinawi, Marwan, Toutain, Annick, Vyhnálková, Emílie, Wheeler, Patricia, Wilnai, Yael, Hausman-Kedem, Moran, Coolen, Marion, Cantagrel, Vincent, Burglen, Lydie, Lory, Philippe

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), LabEx Ion Channels Science and Therapeutics France, Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Bern University Hospital Berne (Inselspital), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Arnold Palmer Hospital, Boston Children's Hospital, Harvard Medical School Boston (HMS), CHU Rouen, Normandie Université (NU), Cancer and Brain Genomics (CBG), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital Lausanne (CHUV), Université de Lausanne = University of Lausanne (UNIL), Leeds Teaching Hospitals NHS Trust, University of Louisville, Ann & Robert H. Lurie Children's Hospital of Chicago, Sydney Children's hospital, University of New South Wales Sydney (UNSW), Washington University School of Medicine Saint Louis, MO, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), University Hospital Motol Prague, Univerzita Karlova Praha, Česká republika = Charles University Prague, Czech Republic (UK), Tel Aviv Sourasky Medical Center Tel Aviv, Tel Aviv University (TAU), Association "Connaître les syndrômes cérébelleux", ANR-11-LABX-0015,ICST,Canaux ioniques d'intérêt thérapeutique(2011)

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: CACNA1G gene, Spinocerebellar ataxia, T-type voltage-gated calcium channel, cerebellum, neurodevelopment, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SCCO.NEUR]Cognitive science/Neuroscience

Relation: info:eu-repo/semantics/altIdentifier/pmid/39674904; PUBMED: 39674904

الاتاحة: https://hal.science/hal-04846047
https://hal.science/hal-04846047v1/document
https://hal.science/hal-04846047v1/file/Qebibo%20et%20al%202024.pdf
https://doi.org/10.1016/j.gim.2024.101337

المؤلفون: Gripp, Karen, Smithson, Sarah F., Scurr, Ingrid J., Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B., Wentzensen, Ingrid M., McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E. H., van Binsbergen, Ellen, Dinulos, Mary Beth P., Kaplan, Julie D., McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, Kerstin

المصدر: http://lobid.org/resources/99370671030206441#!, 29(9):1384-1395.

مصطلحات موضوعية: Abnormalities, Multiple/genetics [MeSH], Gain of Function Mutation [MeSH], Multiple/pathology [MeSH], Hallux/pathology [MeSH], Genetics research, Intellectual Disability/pathology [MeSH], Male [MeSH], Thumb/abnormalities [MeSH], Nails, Malformed/genetics [MeSH], Phenotype [MeSH], Channelopathies/pathology [MeSH], Child [MeSH], Craniofacial Abnormalities/pathology [MeSH], Adolescent [MeSH], Female [MeSH], Fibromatosis, Gingival/pathology [MeSH], Potassium Channels/genetics [MeSH], Adult [MeSH], Humans [MeSH], Intellectual Disability/genetics [MeSH], Thumb/pathology [MeSH], Channelopathies/genetics [MeSH], Paediatric neurological disorders, Malformed/pathology [MeSH], Hand Deformities, Congenital/pathology [MeSH], Hallux/abnormalities [MeSH]

Relation: https://repository.publisso.de/resource/frl:6442792; https://doi.org/10.1038/s41431-021-00818-9; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440610/

الاتاحة: https://repository.publisso.de/resource/frl:6442792
https://doi.org/10.1038/s41431-021-00818-9
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440610/

المؤلفون: Gripp, Karen W, Smithson, Sarah F, Scurr, Ingrid J, Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B, Wentzensen, Ingrid M, McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E H, van Binsbergen, Ellen, Dinulos, Mary Beth P, Kaplan, Julie D, McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, Kutsche, Kerstin

المساهمون: Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health

مصطلحات موضوعية: Genetics(clinical), Genetics, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/443300

الاتاحة: https://dspace.library.uu.nl/handle/1874/443300

المؤلفون: Lindgren, Valerie, McRae, Anne, Dineen, Richard, Saulsberry, Alexandria, Hoganson, George, Schrift, Michael

المصدر: Molecular Genetics & Genomic Medicine ; volume 3, issue 4, page 346-353 ; ISSN 2324-9269 2324-9269

الاتاحة: http://dx.doi.org/10.1002/mgg3.146
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.146
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.146
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.146

المؤلفون: McRae, Anne, Jurgensmeyer, Sarah, Vogt, Michael, Mudahar, Sukhraj, Bieber, David, Baker, Joshua

المصدر: Molecular Genetics and Metabolism ; volume 132, page S5 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/s1096-7192(21)00095-0
https://api.elsevier.com/content/article/PII:S1096719221000950?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719221000950?httpAccept=text/plain

المؤلفون: Qebibo, Leila, Davakan, Amaël, Nesson-Dauphin, Mathilde, Boulali, Najlae, Siquier-Pernet, Karine, Afenjar, Alexandra, Amiel, Jeanne, Bartholdi, Deborah, Barth, Magalie, Blondiaux, Eléonore, Cristian, Ingrid, Frazier, Zoe, Goldenberg, Alice, Good, Jean-Marc, Salussolia, Catherine Lourdes, Sahin, Mustafa, McCullagh, Helen, McDonald, Kimberly, McRae, Anne, Morrison, Jennifer, Pinner, Jason, Shinawi, Marwan, Toutain, Annick, Vyhnálková, Emílie, Wheeler, Patricia G., Wilnai, Yael, Hausman-Kedem, Moran, Coolen, Marion, Cantagrel, Vincent, Burglen, Lydie, Lory, Philippe

المصدر: Genetics in Medicine; 20250101, Issue: Preprints

المؤلفون: Genetica Klinische Genetica, Genetica Sectie Genoomdiagnostiek, Child Health, Gripp, Karen W, Smithson, Sarah F, Scurr, Ingrid J, Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B, Wentzensen, Ingrid M, McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E H, van Binsbergen, Ellen, Dinulos, Mary Beth P, Kaplan, Julie D, McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, Kutsche, Kerstin

URL: https://doi.org/10.1038/s41431-021-00818-9
http://hdl.handle.net/1874/443300
https://dspace.library.uu.nl/handle/1874/443300
http://www.scopus.com/inward/record.url?scp=85100941043&partnerID=8YFLogxK
1018-4813
European Journal of Human Genetics
29
9
1384
1395

المؤلفون: Wong, Michael T., Dolan, Matthew J., Lattuada, Charles P., Regnery, Russell L., Garcia, Maria L., Mokulis, Elizabeth C., LaBarre, RoseAnne C., Ascher, David P., Delmar, Judy A., Kelly, J. William, Leigh, Douglas R., McRae, Anne C., Reed, J. Brian, Smith, Robert E., Melcher, Gregory P.

مصطلحات موضوعية: Clinical Articles

وصف الملف: text/html

Relation: http://cid.oxfordjournals.org/cgi/content/short/21/2/352; http://dx.doi.org/10.1093/clinids/21.2.352

الاتاحة: http://cid.oxfordjournals.org/cgi/content/short/21/2/352
https://doi.org/10.1093/clinids/21.2.352

المؤلفون: Corkery, Jill T., McRae, Anne, O'Neill, Suzanne M., Helgeson, Maria, Charrow, Joel, Dineen, Richard

المصدر: Molecular Genetics and Metabolism ; volume 117, issue 2, page S36-S37 ; ISSN 1096-7192

الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2015.12.227
https://api.elsevier.com/content/article/PII:S1096719215004126?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1096719215004126?httpAccept=text/plain

المؤلفون: McRae, Anne Evelyn

المساهمون: Chairperson, Graduate Committee: Donna A. Williams

مصطلحات موضوعية: Mental health, Psychotropic drugs, Energy drinks, Patient education, Food habits

وصف الملف: application/pdf

Relation: https://scholarworks.montana.edu/xmlui/handle/1/14043

الاتاحة: https://scholarworks.montana.edu/xmlui/handle/1/14043

المؤلفون: McRae, Anne

المصدر: The Journal of Parasitology, 1935 Jun 01. 21(3), 222-223.

URL الوصول: https://www.jstor.org/stable/3271488

المؤلفون: McRae, Anne

المصدر: The Journal of Parasitology, 1935 Jun 01. 21(3), 220-220.

URL الوصول: https://www.jstor.org/stable/3271485

المؤلفون: McRae, Anne (AUTHOR), Jurgensmeyer, Sarah (AUTHOR), Vogt, Michael (AUTHOR), Mudahar, Sukhraj (AUTHOR), Bieber, David (AUTHOR), Baker, Joshua (AUTHOR)

المصدر: Molecular Genetics & Metabolism. 2021 Supplement 1, Vol. 132, pS5-S5. 1p.

مصطلحات موضوعية: *FOLINIC acid

المؤلفون: Cooper, Alison (1967- ).

المساهمون: McRae, Anne., De Luca, Daniela., Maciołek, Marek (1963- )., Podsiedlik-Raniowski i Spółka. pbl

المصدر: Indeks.

مصطلحات موضوعية: Geografia -- wydawnictwa ilustrowane, Kontynenty -- wydawnictwa ilustrowane

URL الوصول: http://katalog.nukat.edu.pl/lib/item?id=chamo:819673&theme=nukat