Sortiert nach
American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.570-578
2019
Volltextzugriff (PDF)
American journal of human genetics, 2022-09, Vol.109 (9), p.1713-1723
- Marafi, Dana
- Kozar, Nina
- Duan, Ruizhi
- Bradley, Stephen
- Yokochi, Kenji
- Al Mutairi, Fuad
- Saadi, Nebal Waill
- Whalen, Sandra
- Brunet, Theresa
- Kotzaeridou, Urania
- Choukair, Daniela
- Keren, Boris
- Nava, Caroline
- Kato, Mitsuhiro
- Arai, Hiroshi
- Froukh, Tawfiq
- Faqeih, Eissa Ali
- AlAsmari, Ali M.
- Saleh, Mohammed M.
- Pinto e Vairo, Filippo
- Pichurin, Pavel N.
- Klee, Eric W.
- Schmitz, Christopher T.
- Grochowski, Christopher M.
- Mitani, Tadahiro
- Herman, Isabella
- Calame, Daniel G.
- Fatih, Jawid M.
- Du, Haowei
- Coban-Akdemir, Zeynep
- Pehlivan, Davut
- Jhangiani, Shalini N.
- Gibbs, Richard A.
- Miyatake, Satoko
- Matsumoto, Naomichi
- Wagstaff, Laura J.
- Posey, Jennifer E.
- Lupski, James R.
- Meijer, Dies
- Wagner, Matias
2022
Volltextzugriff (PDF)
Journal of clinical immunology, 2018-04, Vol.38 (3), p.307-319
2018
Volltextzugriff (PDF)
Ophthalmology (Rochester, Minn.), 2017-07, Vol.124 (7), p.1085-1087
2017
Volltextzugriff (PDF)
BMC nephrology, 2020-08, Vol.21 (1), p.341-341, Article 341
2020
Volltextzugriff (PDF)
Kidney medicine, 2021-09, Vol.3 (5), p.785-798
- Pinto e Vairo, Filippo
- Prochnow, Carri
- Kemppainen, Jennifer L.
- Lisi, Emily C.
- Steyermark, Joan M.
- Kruisselbrink, Teresa M.
- Pichurin, Pavel N.
- Dhamija, Rhadika
- Hager, Megan M.
- Albadri, Sam
- Cornell, Lynn D.
- Lazaridis, Konstantinos N.
- Klee, Eric W.
- Senum, Sarah R.
- El Ters, Mireille
- Amer, Hatem
- Baudhuin, Linnea M.
- Moyer, Ann M.
- Keddis, Mira T.
- Zand, Ladan
- Sas, David J.
- Erickson, Stephen B.
- Fervenza, Fernando C.
- Lieske, John C.
- Harris, Peter C.
- Hogan, Marie C.
2021
Volltextzugriff (PDF)
Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1477-n/a
2020
Volltextzugriff (PDF)
Journal of neuro-oncology, 2023-08, Vol.164 (1), p.239-247
2023
Volltextzugriff (PDF)
Molecular genetics and metabolism reports, 2017-12, Vol.13 (C), p.46-51
2017
Volltextzugriff (PDF)
Endocrinology, diabetes & metabolism case reports, 2019-03, Vol.2019 (1), p.1-5
2019
Volltextzugriff (PDF)
Mayo Clinic proceedings, 2021-09, Vol.96 (9), p.2342-2353
2021
Volltextzugriff (PDF)
Nature genetics, 2021-07, Vol.53 (7), p.1006-1021
- Cousin, Margot A
- Creighton, Blake A
- Breau, Keith A
- Spillmann, Rebecca C
- Torti, Erin
- Dontu, Sruthi
- Tripathi, Swarnendu
- Ajit, Deepa
- Edwards, Reginald J
- Afriyie, Simone
- Bay, Julia C
- Harper, Kathryn M
- Beltran, Alvaro A
- Munoz, Lorena J
- Falcon Rodriguez, Liset
- Stankewich, Michael C
- Person, Richard E
- Si, Yue
- Normand, Elizabeth A
- Blevins, Amy
- May, Alison S
- Bier, Louise
- Aggarwal, Vimla
- Mancini, Grazia M S
- van Slegtenhorst, Marjon A
- Cremer, Kirsten
- Becker, Jessica
- Engels, Hartmut
- Aretz, Stefan
- MacKenzie, Jennifer J
- Brilstra, Eva
- van Gassen, Koen L I
- van Jaarsveld, Richard H
- Oegema, Renske
- Parsons, Gretchen M
- Mark, Paul
- Helbig, Ingo
- McKeown, Sarah E
- Stratton, Robert
- Cogne, Benjamin
- Isidor, Bertrand
- Cacheiro, Pilar
- Smedley, Damian
- Firth, Helen V
- Bierhals, Tatjana
- Kloth, Katja
- Weiss, Deike
- Fairley, Cecilia
- Shieh, Joseph T
- Kritzer, Amy
- Jayakar, Parul
- Kurtz-Nelson, Evangeline
- Bernier, Raphael A
- Wang, Tianyun
- Eichler, Evan E
- van de Laar, Ingrid M B H
- McConkie-Rosell, Allyn
- McDonald, Marie T
- Kemppainen, Jennifer
- Lanpher, Brendan C
- Schultz-Rogers, Laura E
- Gunderson, Lauren B
- Pichurin, Pavel N
- Yoon, Grace
- Zech, Michael
- Jech, Robert
- Winkelmann, Juliane
- Beltran, Adriana S
- Zimmermann, Michael T
- Temple, Brenda
- Moy, Sheryl S
- Klee, Eric W
- Tan, Queenie K-G
- Lorenzo, Damaris N
2021
Volltextzugriff (PDF)
Nature genetics, 2022-10, Vol.54 (10), p.1534-1543
- Sörmann, Janina
- Schewe, Marcus
- Proks, Peter
- Jouen-Tachoire, Thibault
- Rao, Shanlin
- Riel, Elena B
- Agre, Katherine E
- Begtrup, Amber
- Dean, John
- Descartes, Maria
- Fischer, Jan
- Gardham, Alice
- Lahner, Carrie
- Mark, Paul R
- Muppidi, Srikanth
- Pichurin, Pavel N
- Porrmann, Joseph
- Schallner, Jens
- Smith, Kirstin
- Straub, Volker
- Vasudevan, Pradeep
- Willaert, Rebecca
- Carpenter, Elisabeth P
- Rödström, Karin E J
- Hahn, Michael G
- Müller, Thomas
- Baukrowitz, Thomas
- Hurles, Matthew E
- Wright, Caroline F
- Tucker, Stephen J
2022
Volltextzugriff (PDF)
The lancet oncology, 2024-05, Vol.25 (5), p.668-682
- Ercan, Ayse Bahar
- Aronson, Melyssa
- Chang, Yuan
- Liu, Zhihui Amy
- Negm, Logine
- Edwards, Melissa
- Chung, Jiil
- Reschke, Agnes
- Lion, Alex
- Ahmad, Alia
- Lassaletta, Alvaro
- Al-Darraji, Amir F
- Shah, Amish C
- Van Damme, An
- Bendel, Anne
- Rashid, Aqeela
- Margol, Ashley S
- Kelly, Bethany L
- Heald, Brandie
- Lemieux-Anglin, Brianna
- Crooks, Bruce
- Koschmann, Carl
- Gilpin, Catherine
- Gass, David
- Samuel, David
- Ziegler, David S
- Blumenthal, Deborah T
- Kuo, Dennis John
- Hamideh, Dima
- Basel, Donald
- Stearns, Duncan
- Opocher, Enrico
- Toledano, Helen
- Winer, Ira
- Fedorakova, Ivana
- Su, Jack M
- Vengoechea, Jaime
- Sterba, Jaroslav
- Knipstein, Jeffrey
- Hansford, Jordan R
- Bhatia, Kanika
- Minhas, Khurram
- Nichols, Kim E
- Cole, Kristina A
- Penney, Lynette
- Hjort, Magnus Aasved
- Sabel, Magnus
- Murray, Matthew J
- Miller, Matthew
- Blundell, Maude L
- Massimino, Maura
- Al-Hussaini, Maysa
- Comito, Melanie A
- Osborn, Michael
- Link, Michael P
- Zapotocky, Michal
- Ghalibafian, Mithra
- Mushtaq, Naureen
- Hijiya, Nobuko
- Fuentes-Bolanos, Noemi
- Ahmad, Olfat
- Chamdine, Omar
- Pichurin, Pavel N
- Nyman, Per
- Auer, Rebecca C
- Sukumaran, Reghu K
- Kebudi, Rejin
- Dvir, Rina
- Raphael, Robert
- Elhasid, Ronit
- Chami, Rose
- Noss, Ryan
- Tanaka, Ryuma
- Raskin, Salmo
- Sen, Santanu
- Lindhorst, Scott
- Caspi, Shani
- Riaz, Shazia
- Constantini, Shlomi
- Albert, Sophie
- Chaleff, Stanley
- Chiaravalli, Stefano
- Roy, Sumita
- Cahn, Suzanne
- Hamid, Syed Ahmer
- Ghafoor, Tariq
- Imam, Uzma
- Larouche, Valerie
- Magimairajan Issai, Vanan
- Foulkes, William D
- Lee, Yi Yen
- Nathan, Paul C
- Maruvka, Yosef E
- Greer, Mary-Louise C
- Durno, Carol
- Shlien, Adam
- Malkin, David
- Hawkins, Cynthia
- Das, Anirban
- Tabori, Uri
2024
Volltextzugriff (PDF)
Mayo Clinic proceedings, 2016-03, Vol.91 (3), p.297-307
- Lazaridis, Konstantinos N
- Schahl, Kimberly A
- Cousin, Margot A
- Babovic-Vuksanovic, Dusica
- Riegert-Johnson, Douglas L
- Gavrilova, Ralitza H
- McAllister, Tammy M
- Lindor, Noralane M
- Abraham, Roshini S
- Ackerman, Michael J
- Pichurin, Pavel N
- Deyle, David R
- Gavrilov, Dimitar K
- Hand, Jennifer L
- Klee, Eric W
- Stephens, Michael C
- Wick, Myra J
- Atkinson, Elizabeth J
- Linden, David R
- Ferber, Matthew J
- Wieben, Eric D
- Farrugia, Gianrico
2016
Volltextzugriff (PDF)
Genetics in medicine, 2021-03, Vol.23 (3), p.498-507
- Klee, Eric W
- Cousin, Margot A
- Pinto E Vairo, Filippo
- Morales-Rosado, Joel A
- Macke, Erica L
- Jenkinson, W Garrett
- Ferrer, Alejandro
- Schultz-Rogers, Laura E
- Olson, Rory J
- Oliver, Gavin R
- Sigafoos, Ashley N
- Schwab, Tanya L
- Zimmermann, Michael T
- Urrutia, Raul A
- Kaiwar, Charu
- Gupta, Aditi
- Blackburn, Patrick R
- Boczek, Nicole J
- Prochnow, Carri A
- Lowy, Rebecca J
- Mulvihill, Lindsay A
- McAllister, Tammy M
- Aoudia, Stacy L
- Kruisselbrink, Teresa M
- Gunderson, Lauren B
- Kemppainen, Jennifer L
- Fisher, Laura J
- Tarnowski, Jessica M
- Hager, Megan M
- Kroc, Sarah A
- Bertsch, Nicole L
- Agre, Katherine E
- Jackson, Jessica L
- Macklin-Mantia, Sarah K
- Murphree, Marine I
- Rust, Laura M
- Summer Bolster, Jolene M
- Beck, Scott A
- Atwal, Paldeep S
- Ellingson, Marissa S
- Barnett, Sarah S
- Rasmussen, Kristen J
- Lahner, Carrie A
- Niu, Zhiyv
- Hasadsri, Linda
- Ferber, Matthew J
- Marcou, Cherisse A
- Clark, Karl J
- Pichurin, Pavel N
- Deyle, David R
- Morava-Kozicz, Eva
- Gavrilova, Ralitza H
- Dhamija, Radhika
- Wierenga, Klaas J
- Lanpher, Brendan C
- Babovic-Vuksanovic, Dusica
- Farrugia, Gianrico
- Schimmenti, Lisa A
- Stewart, A Keith
- Lazaridis, Konstantinos N
2021
Volltextzugriff (PDF)
European journal of human genetics : EJHG, 2020-10, Vol.28 (10), p.1422-1431
- Drivas, Theodore G
- Li, Dong
- Nair, Divya
- Alaimo, Joseph T
- Alders, Mariëlle
- Altmüller, Janine
- Barakat, Tahsin Stefan
- Bebin, E Martina
- Bertsch, Nicole L
- Blackburn, Patrick R
- Blesson, Alyssa
- Bouman, Arjan M
- Brockmann, Knut
- Brunelle, Perrine
- Burmeister, Margit
- Cooper, Gregory M
- Denecke, Jonas
- Dieux-Coëslier, Anne
- Dubbs, Holly
- Ferrer, Alejandro
- Gal, Danna
- Bartik, Lauren E
- Gunderson, Lauren B
- Hasadsri, Linda
- Jain, Mahim
- Karimov, Catherine
- Keena, Beth
- Klee, Eric W
- Kloth, Katja
- Lace, Baiba
- Macchiaiolo, Marina
- Marcadier, Julien L
- Milunsky, Jeff M
- Napier, Melanie P
- Ortiz-Gonzalez, Xilma R
- Pichurin, Pavel N
- Pinner, Jason
- Powis, Zoe
- Prasad, Chitra
- Radio, Francesca Clementina
- Rasmussen, Kristen J
- Renaud, Deborah L
- Rush, Eric T
- Saunders, Carol
- Selcen, Duygu
- Seman, Ann R
- Shinde, Deepali N
- Smith, Erica D
- Smol, Thomas
- Snijders Blok, Lot
- Stoler, Joan M
- Tang, Sha
- Tartaglia, Marco
- Thompson, Michelle L
- van de Kamp, Jiddeke M
- Wang, Jingmin
- Weise, Dagmar
- Weiss, Karin
- Woitschach, Rixa
- Wollnik, Bernd
- Yan, Huifang
- Zackai, Elaine H
- Zampino, Giuseppe
- Campeau, Philippe
- Bhoj, Elizabeth
2020
Volltextzugriff (PDF)
American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1649-1665
- Sheppard, Sarah E.
- Campbell, Ian M.
- Harr, Margaret H.
- Gold, Nina
- Li, Dong
- Bjornsson, Hans T.
- Cohen, Julie S.
- Fahrner, Jill A.
- Fatemi, Ali
- Harris, Jacqueline R.
- Nowak, Catherine
- Stevens, Cathy A.
- Grand, Katheryn
- Au, Margaret
- Graham, John M.
- Sanchez‐Lara, Pedro A.
- Campo, Miguel Del
- Jones, Marilyn C.
- Abdul‐Rahman, Omar
- Bassetti, Jennifer A.
- Bergstrom, Katherine
- Bhoj, Elizabeth
- Dugan, Sarah
- Kaplan, Julie D.
- Derar, Nada
- Gripp, Karen W.
- Hauser, Natalie
- Innes, A. Micheil
- Keena, Beth
- Kodra, Neslida
- Miller, Rebecca
- Nelson, Beverly
- Nowaczyk, Malgorzata J.
- Rahbeeni, Zuhair
- Ben‐Shachar, Shay
- Shieh, Joseph T.
- Slavotinek, Anne
- Sobering, Andrew K.
- Abbott, Mary‐Alice
- Allain, Dawn C.
- Amlie‐Wolf, Louise
- Au, Ping Yee Billie
- Bedoukian, Emma
- Beek, Geoffrey
- Barry, James
- Berg, Janet
- Bernstein, Jonathan A.
- Cytrynbaum, Cheryl
- Chung, Brian Hon‐Yin
- Donoghue, Sarah
- Dorrani, Naghmeh
- Eaton, Alison
- Flores‐Daboub, Josue A.
- Dubbs, Holly
- Felix, Carolyn A.
- Fong, Chin‐To
- Fung, Jasmine Lee Fong
- Gangaram, Balram
- Goldstein, Amy
- Greenberg, Rotem
- Ha, Thoa K.
- Hersh, Joseph
- Izumi, Kosuke
- Kravets, Elijah
- Kwok, Pui‐Yan
- Jobling, Rebekah K.
- Knight Johnson, Amy E.
- Kushner, Jessica
- Lee, Bo Hoon
- Levin, Brooke
- Lindstrom, Kristin
- Manickam, Kandamurugu
- Mardach, Rebecca
- McCormick, Elizabeth
- McLeod, D. Ross
- Mentch, Frank D.
- Minks, Kelly
- Muraresku, Colleen
- Nelson, Stanley F.
- Porazzi, Patrizia
- Pichurin, Pavel N.
- Powell‐Hamilton, Nina N.
- Powis, Zoe
- Ritter, Alyssa
- Rogers, Caleb
- Rohena, Luis
- Ronspies, Carey
- Schroeder, Audrey
- Stark, Zornitza
- Starr, Lois
- Stoler, Joan
- Suwannarat, Pim
- Velinov, Milen
- Weksberg, Rosanna
- Wilnai, Yael
- Zadeh, Neda
- Falk, Marni J.
- Hakonarson, Hakon
- Zackai, Elaine H.
- Quintero‐Rivera, Fabiola
2021
Volltextzugriff (PDF)
Human genetics, 2024-05, Vol.143 (5), p.649-666
- Ferrer, Alejandro
- Duffy, Patrick
- Olson, Rory J.
- Meiners, Michael A.
- Schultz-Rogers, Laura
- Macke, Erica L.
- Safgren, Stephanie
- Morales-Rosado, Joel A.
- Cousin, Margot A.
- Oliver, Gavin R.
- Rider, David
- Williams, Megan
- Pichurin, Pavel N.
- Deyle, David R.
- Morava, Eva
- Gavrilova, Ralitza H.
- Dhamija, Radhika
- Wierenga, Klass J.
- Lanpher, Brendan C.
- Babovic-Vuksanovic, Dusica
- Kaiwar, Charu
- Vitek, Carolyn R.
- McAllister, Tammy M.
- Wick, Myra J.
- Schimmenti, Lisa A.
- Lazaridis, Konstantinos N.
- Vairo, Filippo Pinto e
- Klee, Eric W.
2024
Volltextzugriff (PDF)
Genetics in medicine, 2023-02, Vol.25 (2), p.100359-100359, Article 100359
- Klee, Eric W.
- Cousin, Margot A.
- Pinto e Vairo, Filippo
- Morales-Rosado, Joel A.
- Macke, Erica L.
- Jenkinson, W. Garrett
- Ferrer, Alejandro
- Schultz-Rogers, Laura E.
- Olson, Rory J.
- Oliver, Gavin R.
- Sigafoos, Ashley N.
- Schwab, Tanya L.
- Zimmermann, Michael T.
- Urrutia, Raul A.
- Kaiwar, Charu
- Gupta, Aditi
- Blackburn, Patrick R.
- Boczek, Nicole J.
- Prochnow, Carri A.
- Lowy, Rebecca J.
- Mulvihill, Lindsay A.
- McAllister, Tammy M.
- Aoudia, Stacy L.
- Kruisselbrink, Teresa M.
- Gunderson, Lauren B.
- Kemppainen, Jennifer L.
- Fisher, Laura J.
- Tarnowski, Jessica M.
- Hager, Megan M.
- Kroc, Sarah A.
- Bertsch, Nicole L.
- Agre, Katherine E.
- Jackson, Jessica L.
- Macklin-Mantia, Sarah K.
- Murphree, Marine I.
- Rust, Laura M.
- Summer Bolster, Jolene M.
- Beck, Scott A.
- Atwal, Paldeep S.
- Ellingson, Marissa S.
- Barnett, Sarah S.
- Rasmussen, Kristen J.
- Lahner, Carrie A.
- Niu, Zhiyv
- Hasadsri, Linda
- Ferber, Matthew J.
- Marcou, Cherisse A.
- Clark, Karl J.
- Pichurin, Pavel N.
- Deyle, David R.
- Morava-Kozicz, Eva
- Gavrilova, Ralitza H.
- Dhamija, Radhika
- Wierenga, Klaas J.
- Lanpher, Brendan C.
- Babovic-Vuksanovic, Dusica
- Farrugia, Gianrico
- Schimmenti, Lisa A.
- Stewart, A. Keith
- Lazaridis, Konstantinos N.
2023
Volltextzugriff (PDF)
Thrombosis research, 2020-11, Vol.195, p.187-189
2020
Volltextzugriff (PDF)
Genetics in medicine, 2021-09, Vol.23 (9), p.1624-1635
- Schnur, Rhonda E
- Yousaf, Sairah
- Liu, James
- Chung, Wendy K
- Rhodes, Lindsay
- Marble, Michael
- Zambrano, Regina M
- Sobreira, Nara
- Jayakar, Parul
- Pierpont, Mary Ella
- Schultz, Matthew J
- Pichurin, Pavel N
- Olson, Rory J
- Graham, Gail E
- Osmond, Matthew
- Contreras-García, Gustavo A
- Campo-Neira, Karina A
- Peñaloza-Mantilla, Camilo A
- Flage, Mark
- Kuppa, Srikar
- Navarro, Karina
- Sacoto, Maria J Guillen
- Wentzensen, Ingrid M
- Scarano, Maria I
- Juusola, Jane
- Prada, Carlos E
- Hufnagel, Robert B
2021
Volltextzugriff (PDF)
Endocrinology (Philadelphia), 2005-01, Vol.146 (1), p.294-300
2005
Volltextzugriff (PDF)
Endocrinology (Philadelphia), 2007-12, Vol.148 (12), p.5724-5733
2007
Volltextzugriff (PDF)
The American journal of case reports, 2018-03, Vol.19, p.347-353
2018
Volltextzugriff (PDF)
Suchergebnisse filtern
Filter anzeigenNur zeigen
Erscheinungsjahr
n.n
n.n
Thema
- Life Sciences & Biomedicine
- Science & Technology
- Humans
- Female
- Genetics & Heredity
- Animals
- Male
- Mice
- Endocrinology & Metabolism
- Biological And Medical Sciences
- Fundamental And Applied Biological Sciences. Psychology
- Phenotype
- Adolescent
- Child
- Child, Preschool
- Vertebrates: Endocrinology
- Adult
- Genomics
- Phenotypes
- Receptors, Thyrotropin - Genetics
Kollektion
- MEDLINE
- EZB Electronic Journals Library
- Ingenta
- Ovid SocietyJournals and Single Titles
- Oxford Journals
- Oxford Journals 2020 Medicine
- Nature Journals
- SpringerLink
- Elsevier ScienceDirect Journals
- IngentaConnect Journals
- Wiley-Blackwell Journals
- Single Journals
- Wiley Online Library Full Collection 2018
- SpringerLINK Contemporary (Konsortium Baden-Württemberg)
- Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
- Nexis Uni
Zeitschrift / Serie