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Journal of Physics: Conference Series, ISSN 1742-6596, 02/2013, Volume 415, pp. 12070 - 7
Jerry Pethick (1935-2003) was one of the first artists to experiment with holography in the mid 1960's. He was a close friend and collaborator with Lloyd Cross... 
Multiplexing | Construction | Sand | Handbooks | Tables (data) | Holography | Artists | Holograms
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2019, Volume 179, Issue 10, pp. 1987 - 2033
Turner syndrome is recognized now as a syndrome familiar not only to pediatricians and pediatric specialists, medical geneticists, adult endocrinologists, and... 
hormone replacement therapy | sex chromosome abnormality syndrome | clinical history | transitioning | infertility | Turner syndrome | Adolescence | Genetic disorders | Physical growth | Turner's syndrome | Index Medicus
Journal Article
by Mahajan, Anubha and Go, Min Jin and Zhang, Weihua and Below, Jennifer E and Gaulton, Kyle J and Ferreira, Teresa and Horikoshi, Momoko and Johnson, Anew D and Ng, Maggie C. Y and Prokopenko, Inga and Saleheen, Danish and Wang, Xu and Zeggini, Eleftheria and Abecasis, Goncalo R and Adair, Linda S and Almgren, Peter and Atalay, Mustafa and Aung, Tin and Baldassarre, Damiano and Balkau, Beverley and Bao, Yuqian and Barnett, Anthony H and Barroso, Ines and Basit, Abdul and Been, Latonya F and Beilby, John and Bell, Graeme I and Benediktsson, Rafn and Bergman, Richard N and Boehm, Bernhard O and Boerwinkle, Eric and Bonnycastle, Lori L and Burtt, Noël and Cai, Qiuyin and Campbell, Harry and Carey, Jason and Cauchi, Stephane and Caulfield, Mark and Chan, Juliana C. N and Chang, Li-Ching and Chang, Tien-Jyun and Chang, Yi-Cheng and Charpentier, Guillaume and Chen, Chien-Hsiun and Chen, Han and Chen, Yuan-Tsong and Chia, Kee-Seng and Chidambaram, Manickam and Chines, Peter S and Cho, Nam H and Cho, Young Min and Chuang, Lee-Ming and Collins, Francis S and Cornelis, Marilyn C and Couper, David J and Crenshaw, Anew T and van Dam, Rob M and Danesh, John and Das, Debashish and de Faire, Ulf and Dedoussis, George and Deloukas, Panos and Dimas, Antigone S and Dina, Christian and Doney, Alex S. F and Donnelly, Peter J and Dorkhan, Mozhgan and van Duijn, Cornelia and Dupuis, Josée and Edkins, Sarah and Elliott, Paul and Emilsson, Valur and Erbel, Raimund and Eriksson, Johan G and Escobedo, Jorge and Esko, Tonu and Eury, Elodie and Florez, Jose C and Fontanillas, Pierre and Forouhi, Nita G and Forsen, Tom and Fox, Caroline and Fraser, Ross M and Frayling, Timothy M and Froguel, Philippe and Frossard, Philippe and Gao, Yutang and Gertow, Karl and Gieger, Christian and Gigante, Bruna and Grallert, Harald and Grant, George B and Groop, Leif C and Groves, Christopher J and Grundberg, Elin and Guiducci, Candace and Hamsten, Anders and Han, Bok-Ghee and Hara, Kazuo and Hassanali, Neelam and ... and South Asian Type Diabet SAT2D Cons and DIAbet Genetics Replication & Meta and Mexican Amer Type 2 Diabet MAT2D C and Asian Genetic Epidemiology Network and Type 2 Diabet Genetic Exploration and South Asian Type 2 Diabetes (SAT2D) Consortium and Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium and Type 2 Diabetes Genetic Exploration by Nex-generation sequencing in muylti-Ethnic Samples (T2D-GENES) Consortium and DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium and Mexican American Type 2 Diabetes (MAT2D) Consortium and Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples (T2D-GENES) Consortium and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Molekylär medicin and Kardiovaskulär epidemiologi and Uppsala universitet and Institutionen för medicinska vetenskaper and Molekylär epidemiologi
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 3, pp. 234 - 244
Journal Article
by Pereyra, Florencia and Jia, Xiaoming and McLaren, Paul J and Telenti, Amalio and de Bakker, Paul I. W and Walker, Bruce D and Ripke, Stephan and Brumme, Chanson J and Pulit, Sara L and Carrington, Mary and Kadie, Carl M and Carlson, Jonathan M and Heckerman, David and Graham, Robert R and Plenge, Robert M and Deeks, Steven G and Gianniny, Lauren and Crawford, Gabriel and Sullivan, Jordan and Gonzalez, Elena and Davies, Leela and Camargo, Amy and Moore, Jamie M and Beattie, Nicole and Gupta, Supriya and Crenshaw, Anew and Burtt, Noël P and Guiducci, Candace and Gupta, Namrata and Gao, Xiaojiang and Qi, Ying and Yuki, Yuko and Piechocka-Trocha, Alicja and Cutrell, Emily and Rosenberg, Rachel and Moss, Kristin L and Lemay, Paul and O'Leary, Jessica and Schaefer, Todd and Verma, Pranshu and Toth, Ildiko and Block, Brian and Baker, Brett and Rothchild, Alissa and Lian, Jeffrey and Proudfoot, Jacqueline and Alvino, Donna Marie L and Vine, Seanna and Addo, Marylyn M and Allen, Todd M and Altfeld, Marcus and Henn, Matthew R and Le Gall, Sylvie and Streeck, Henik and Haas, David W and Kuritzkes, Daniel R and Robbins, Gregory K and Shafer, Robert W and Gulick, Roy M and Shikuma, Cecilia M and Haubrich, Richard and Riddler, Sharon and Sax, Paul E and Daar, Eric S and Ribaudo, Heather J and Agan, Brian and Agarwal, Shanu and Ahern, Richard L and Allen, Brady L and Altidor, Sherly and Altschuler, Eric L and Ambardar, Sujata and Anastos, Kathryn and Anderson, Ben and Anderson, Val and Anady, Ushan and Antoniskis, Diana and Bangsberg, David and Barbaro, Daniel and Barrie, William and Bartczak, J and Barton, Simon and Basden, Patricia and Basgoz, Nesli and Bazner, Suzane and Bellos, Nicholaos C and Benson, Anne M and Berger, Judith and Bernard, Nicole F and Bernard, Annette M and Birch, Christopher and Bodner, Stanley J and Bolan, Robert K and Boueaux, Emilie T and Bradley, Meg and Braun, James F and Brndjar, Jon E and Brown, Stephen J and Brown, Katherine and Brown, Sheldon T and ... and Int HIV Controllers Study and International HIV Controllers Study and The International HIV Controllers Study
Science, ISSN 0036-8075, 12/2010, Volume 330, Issue 6010, pp. 1551 - 1557
Journal Article
Journal of Physics: Conference Series, ISSN 1742-6588, 2013, Volume 415, Issue 1
Conference Proceeding
Clinical Case Reports, ISSN 2050-0904, 04/2019, Volume 7, Issue 4, pp. 607 - 611
We present a patient with Phelan‐McDermid syndrome, a rare neurodevelopmental disorder caused by a 22q13 deletion, with the previously undescribed finding of... 
9q34 duplication | COL5A1 | gene | aortic dilation | vasculopathy | Phelan‐McDermid syndrome | SHANK3 | 22q13 deletion | Heart | Congenital diseases | Pulmonary arteries | Intellectual disabilities | Patients | Defects | Autism | Genotype & phenotype | Ostomy | Ultrasonic imaging | Surveillance | Coronary vessels | Chromosomes | Veins & arteries | COL5A1 gene | SHANK3 gene
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 8, pp. 1882 - 1883
Journal Article
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 03/2019, Volume 181, Issue 1, pp. 36 - 42
At the Third Turner Resource Network Symposium, a working group presented the results of collaborative discussions about the importance of autopsy in Turner... 
sex chromosome abnormality syndrome | postmortem examination | Turner syndrome | autopsy | palliative care | molecular autopsy | Genetic disorders | Autopsies | Blood & organ donations | Autopsy | Turner's syndrome
Journal Article
Proceedings of SPIE - The International Society for Optical Engineering, ISSN 0277-786X, 9/2013, Volume 8864, pp. 88641T - 88641T-7
A spectrograph is described which is made with dual Holographic Optical Elements (HOEs) which are identical and parallel to each other. Both optics are... 
Habitable Planet | Holography | Spectrograph | Membrane | Exoplanet | HOE | Spectrographs | Wavelengths | Spherical waves | Plane waves | Tools | Space telescopes | Mathematical models | Recording
Conference Proceeding
by Rojnueangnit, Kitiwan and Xie, Jing and Gomes, Alicia and Sharp, Angela and Callens, Tom and Chen, Yunjia and Liu, Ying and Cochran, Meagan and Abbott, Mary‐Alice and Atkin, Joan and Babovic‐Vuksanovic, Dusica and Barnett, Christopher P and Crenshaw, Melissa and Bartholomew, Dennis W and Basel, Lina and Bellus, Gary and Ben‐Shachar, Shay and Bialer, Martin G and Bick, David and Blumberg, Bruce and Cortes, Fanny and David, Karen L and Destree, Anne and Duat‐Rodriguez, Anna and Earl, Dawn and Escobar, Luis and Eswara, Marthanda and Ezquieta, Begona and Frayling, Ian M and Frydman, Moshe and Gardner, Kathy and Gripp, Karen W and Hernández‐Chico, Concepcion and Heyrman, Kurt and Ibrahim, Jennifer and Janssens, Sandra and Keena, Beth A and Llano‐Rivas, Isabel and Leppig, Kathy and McDonald, Marie and Misra, Vinod K and Mulbury, Jennifer and Narayanan, Vinodh and Orenstein, Naama and Galvin‐Parton, Patricia and Pedro, Helio and Pivnick, Eniko K and Powell, Cynthia M and Randolph, Linda and Raskin, Salmo and Rosell, Jordi and Rubin, Karol and Seashore, Margretta and Schaaf, Christian P and Scheuerle, Angela and Schultz, Meredith and Schorry, Elizabeth and Schnur, Rhonda and Siqveland, Elizabeth and Tkachuk, Amanda and Tonsgard, James and Upadhyaya, Meena and Verma, Ishwar C and Wallace, Stephanie and Williams, Charles and Zackai, Elaine and Zonana, Jonathan and Lazaro, Conxi and Claes, Kathleen and Korf, Bruce and Martin, Yolanda and Legius, Eric and Messiaen, Ludwine
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1052 - 1063
Journal Article