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Frontiers in genetics, 2022-02, Vol.13, p.812764-812764
2022
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Kidney360, 2023-04, Vol.4 (4), p.e544
2023
Volltextzugriff (PDF)
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
- Kurata, Harley T.
- Jamra, Rami Abou
- Alkelai, Anna
- Antonarakis, Stylianos E.
- Bolkier, Yoav
- Dickson, Patricia
- Donald, Kirsten A.
- Eliyahu, Aviva
- Emrick, Lisa
- Odent, Sylvie
- Ortiz-Gonzalez, Xilma
- Rosenfeld, Jill A.
- Skraban, Cara
- Alejandro, Mercedes E.
- Azamian, Mahshid S.
- Chao, Hsiao-Tuan
- Dai, Hongzheng
- Dhar, Shweta U.
- Karaviti, Lefkothea
- Lee, Brendan H.
- Scott, Daryl A.
- Wangler, Michael F.
- Eng, Christine M.
- Sullivan, Kathleen
- Goldstein, David B.
- McConkie-Rosell, Allyn
- Schoch, Kelly
- Shashi, Vandana
- Beggs, Alan H.
- Cobban, Laurel A.
- Cooper, Cynthia M.
- Fieg, Elizabeth L.
- Korrick, Susan
- Loscalzo, Joseph
- Maas, Richard L.
- MacRae, Calum A.
- Stoler, Joan M.
- Nagy, Anna
- Dasari, Surendra
- Lanpher, Brendan C.
- Bivona, Stephanie
- Isasi, Rosario
- Levitt, Roy
- Tekin, Mustafa
- Thorson, Willa
- Eckstein, David J.
- Mamounas, Laura A.
- D’Souza, Precilla
- Ferreira, Carlos
- Godfrey, Rena A.
- Groden, Catherine A.
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Nath, Avi
- Baker, Eva
- Power, Bradley
- Mosbrook-Davis, Deborah
- Rossignol, Francis
- Yousef, Muhammad
- Amendola, Laura
- Bamshad, Michael
- Beck, Anita
- Bennett, Jimmy
- Blue, Elizabeth
- Chanprasert, Sirisak
- Glass, Ian
- Jarvik, Gail P.
- Jarvik, Jeffrey
- Mefford, Heather
- Merritt, J. Lawrence
- Raskind, Wendy
- Sybert, Virginia
- Wener, Mark
- Wenger, Tara
- Fisher, Paul G.
- Reuter, Chloe M.
- Smith, Kevin S.
- Zastrow, Diane B.
- Nakano-Okuno, Mariko
- Whitlock, Jordan
- Butte, Manish J.
- Fogel, Brent L.
- Krakow, Deborah
- Lee, Hane
- Palmer, Christina G.S.
- Papp, Jeanette C.
- Woods, Jeremy D.
- Andrews, Ashley
- Pace, Laura
- Viskochil, Dave
- Bican, Anna
- Kennedy, Jennifer
- Cogan, Joy D.
- Cole, F. Sessions
- Kiley, Dana
- Sisco, Kathy
- Schedl, Timothy
- Solnica-Krezel, Lilianna
- Pitt, Geoffrey S.
2021
Volltextzugriff (PDF)
The Journal of pediatrics, 2023-10, Vol.261, p.113537-113537, Article 113537
- Maghiro, AudreyStephannie
- Tabor, Holly K.
- Acosta, Maria T.
- Amendola, Laura
- Andrews, Ashley
- Balasubramanyam, Ashok
- Baldridge, Dustin
- Bennett, Jimmy
- Berg-Rood, Beverly
- Berry, Gerard T.
- Bican, Anna
- Bohnsack, John
- Boyd, Brenna
- Burke, Elizabeth A.
- Byers, Peter
- Peter Chang, Ta Chen
- Chanprasert, Sirisak
- Clark, Gary D.
- Cobban, Laurel A.
- Cogan, Joy D.
- Sessions Cole, F.
- Colley, Heather A.
- Cope, Heidi
- D'Souza, Precilla
- Dasari, Surendra
- Dipple, Katrina
- Doherty, Daniel
- Dorrani, Naghmeh
- Earl, Dawn
- Falk, Marni
- Fieg, Elizabeth L.
- Fisher, Paul G.
- Gahl, William A.
- Goddard, Page C.
- Golden-Grant, Katie
- Grajewski, Alana
- Hahn, Sihoun
- Hamid, Rizwan
- Hassey, Kelly
- Holm, Ingrid A.
- Hom, Jason
- Introne, Wendy
- Izumi, Kosuke
- Jayadev, Suman
- Kiley, Dana
- Kobren, Shilpa N.
- Korrick, Susan
- Krasnewich, Donna M.
- Lam, Christina
- Lanza, Ian R.
- Lee, Brendan H.
- Loo, Sandra K.
- Maas, Richard L.
- Macnamara, Ellen F.
- MacRae, Calum A.
- Manolio, Teri A.
- Marth, Gabor
- McConkie-Rosell, Allyn
- Mefford, Heather
- Nickerson, Deborah
- Nieves-Rodriguez, Shirley
- Novacic, Donna
- Oglesbee, Devin
- Pace, Laura
- Posey, Jennifer E.
- Potocki, Lorraine
- Rao, Deepak A.
- Raskind, Wendy
- Renteria, Genecee
- Robertson, Amy K.
- Rossignol, Francis
- Ruzhnikov, Maura
- Scott, Daryl A.
- Shashi, Vandana
- Shin, Jimann
- Sisco, Kathy
- Smith, Edward C.
- Solomon, Ben
- Sullivan, Jennifer A.
- Sybert, Virginia
- Tan, Amelia L.M.
- Tekin, Mustafa
- Telischi, Fred
- Toro, Camilo
- Ungar, Rachel A.
- Vanderver, Adeline
- Walker, Melissa
- Walley, Nicole M.
- Wambach, Jennifer
- Wan, Jijun
- Wang, Lee-kai
- Ward, Patricia A.
- Wegner, Daniel
- Hubshman, Monika Weisz
- Wener, Mark
- Wenger, Tara
- Westerfield, Monte
- Worley, Kim
- Xiao, Changrui
- Yang, John
2023
Volltextzugriff (PDF)
Genetics in medicine, 2021-02, Vol.23 (2), p.259-271
- Schoch, Kelly
- Esteves, Cecilia
- Bican, Anna
- Spillmann, Rebecca
- Cope, Heidi
- McConkie-Rosell, Allyn
- Walley, Nicole
- Fernandez, Liliana
- Kohler, Jennefer N
- Bonner, Devon
- Reuter, Chloe
- Stong, Nicholas
- Mulvihill, John J
- Novacic, Donna
- Wolfe, Lynne
- Abdelbaki, Ayat
- Toro, Camilo
- Tifft, Cyndi
- Malicdan, May
- Gahl, William
- Liu, Pengfei
- Newman, John
- Goldstein, David B
- Hom, Jason
- Sampson, Jacinda
- Wheeler, Matthew T
- Cogan, Joy
- Bernstein, Jonathan A
- Adams, David R
- McCray, Alexa T
- Shashi, Vandana
2021
Volltextzugriff (PDF)
Genetics in medicine, 2021-06, Vol.23 (6), p.1075-1085
- Krier, Joel B.
- Züchner, Stephan
- Huang, Alden
- Bastarache, Lisa
- Bican, Anna
- Liu, Pengfei
- Adam, Margaret
- Alejandro, Mercedes E.
- Alvey, Justin
- Azamian, Mahshid S.
- Bademci, Guney
- Baker, Eva
- Balasubramanyam, Ashok
- Bale, Jim
- Beck, Anita
- Bennett, Jimmy
- Berry, Gerard T.
- Bohnsack, John
- Bonner, Devon
- Boyd, Brenna
- Brown, Gabrielle
- Burrage, Lindsay C.
- Butte, Manish J.
- Coakley, Terra R.
- Cobban, Laurel A.
- Cogan, Joy D.
- Cole, F. Sessions
- Cunningham, Michael
- Dorrani, Naghmeh
- Doss, Argenia L.
- Douine, Emilie D.
- Eng, Christine M.
- Falk, Marni
- Ferreira, Carlos
- Findley, Laurie C.
- Fogel, Brent L.
- Forghani, Irman
- Gahl, William A.
- Glass, Ian
- Godfrey, Rena A.
- Hanchard, Neil A.
- Hing, Anne
- Huryn, Laryssa
- Isasi, Rosario
- Kiley, Dana
- Korrick, Susan
- Krakow, Deborah
- Lalani, Seema R.
- LeBlanc, Kimberly
- Liu, Xue Zhong
- MacDowall, John
- MacRae, Calum A.
- Mamounas, Laura A.
- Maravilla, Kenneth
- Markello, Thomas C.
- Martin, Beth A.
- Martin, Martin G.
- Marwaha, Shruti
- McCauley, Jacob
- Merritt, J. Lawrence
- Might, Matthew
- Moretti, Paolo
- Murdock, David R.
- Nakano-Okuno, Mariko
- Nickerson, Deborah
- Oglesbee, Devin
- Pace, Laura
- Pallais, J. Carl
- Papp, Jeanette C.
- Phillips, John A.
- Power, Bradley
- Pusey, Barbara N.
- Raja, Archana N.
- Renteria, Genecee
- Rosenwasser, Natalie
- Rossignol, Francis
- Ruzhnikov, Maura
- Sampson, Jacinda B.
- Schedl, Timothy
- Shin, Jimann
- Smith, Edward C.
- Sun, Angela
- Sutton, Shirley
- Sweetser, David A.
- Sybert, Virginia
- Toro, Camilo
- Tucker, Brianna M.
- Velinder, Matt
- Viskochil, Dave
- Wambach, Jennifer
- Wang, Lee-kai
- Ward, Patricia A.
- Wener, Mark
- Westerfield, Monte
- Whitlock, Jordan
- Woods, Jeremy D.
- Yamamoto, Shinya
- Yang, John
- Zein, Wadih
2021
Volltextzugriff (PDF)
Genetics in medicine, 2022-07, Vol.24 (7), p.1567-1582
- Shankar, Suma P.
- Grimsrud, Kristin
- Stoler, Joan
- Brinkmann, Ulrich
- Adam, Margaret
- Amendola, Laura
- Andrews, Ashley
- Bacino, Carlos A.
- Bademci, Guney
- Baldridge, Dustin
- Bale, Jim
- Barbouth, Deborah
- Berg-Rood, Beverly
- Berry, Gerard T.
- Bivona, Stephanie
- Blue, Elizabeth
- Boyd, Brenna
- Briere, Lauren C.
- Burke, Elizabeth A.
- Burrage, Lindsay C.
- Byers, Peter
- Carey, John
- Chao, Hsiao-Tuan
- Colley, Heather A.
- Cooper, Cynthia M.
- Cunningham, Michael
- Dasari, Surendra
- Dayal, Jyoti G.
- Dell'Angelica, Esteban C.
- Dorrani, Naghmeh
- Eckstein, David J.
- Fernandez, Liliana
- Forghani, Irman
- Golden-Grant, Katie
- Goldrich, Madison P.
- Hamid, Rizwan
- Hassey, Kelly
- Introne, Wendy
- Isasi, Rosario
- Jamal, Fariha
- Jayadev, Suman
- Jobanputra, Vaidehi
- Karaviti, Lefkothea
- Kiley, Dana
- Kilich, Gonench
- Kobren, Shilpa N.
- Kohane, Isaac S.
- Krasnewich, Donna M.
- Lanpher, Brendan C.
- LeBlanc, Kimberly
- Levitt, Roy
- Longo, Nicola
- Mak, Bryan C.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Mao, Rong
- Maravilla, Kenneth
- Martin, Martin G.
- McGee, Elisabeth
- Might, Matthew
- Moretti, Paolo M.
- Nicholas, Sarah K.
- Orengo, James P.
- Pace, Laura
- Pak, Stephen
- Papp, Jeanette C.
- Parker, Neil H.
- Potocki, Lorraine
- Pusey, Barbara N.
- Quinlan, Aaron
- Reuter, Chloe M.
- Rives, Lynette
- Robertson, Amy K.
- Rodan, Lance H.
- Sampson, Jacinda B.
- Saporta, Mario
- Scott, Daryl A.
- Silverman, Edwin K.
- Smith, Edward C.
- Smith, Kevin S.
- Stoler, Joan M.
- Sullivan, Kathleen
- Sun, Angela
- Sutton, Shirley
- Tabor, Holly K.
- Tan, Amelia L.M.
- Queenie, K.-G.
- Telischi, Fred
- Tifft, Cynthia J.
- Urv, Tiina K.
- Vogel, Tiphanie P.
- Wahl, Colleen E.
- Wang, Lee-kai
- Wangler, Michael F.
- Perry, Katherine Wesseling
- Westerfield, Monte
- Wheeler, Matthew T.
- Wolfe, Lynne A.
- Zastrow, Diane B.
- Zuchner, Stephan
2022
Volltextzugriff (PDF)
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