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Phenotypic characterization of mice heterozygous for a null mutation of glutamate carboxypeptidase II. [electronic resource] by
- Han, Liqun
- Picker, Jonathan D
- Schaevitz, Laura R
- Tsai, Guochuan
- Feng, Jiamin
- Jiang, Zhichun
- Chu, Hillary C
- Basu, Alo C
- Berger-Sweeney, Joanne
- Coyle, Joseph T
Producer: 20090819
In:
Synapse (New York, N.Y.) vol. 63
Availability: No items available.
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Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. [electronic resource] by
- Picker, Jonathan D
- Puga, Ana C
- Levy, Harvey L
- Marsden, Deborah
- Shih, Vivian E
- Degirolami, Umberto
- Ligon, Keith L
- Cederbaum, Stephen D
- Kern, Rita M
- Cox, Gerald F
Producer: 20030410
In:
The Journal of pediatrics vol. 142
Availability: No items available.
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14.
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Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. [electronic resource] by
- Schmitz-Abe, Klaus
- Li, Qifei
- Rosen, Samantha M
- Nori, Neeharika
- Madden, Jill A
- Genetti, Casie A
- Wojcik, Monica H
- Ponnaluri, Sadhana
- Gubbels, Cynthia S
- Picker, Jonathan D
- O'Donnell-Luria, Anne H
- Yu, Timothy W
- Bodamer, Olaf
- Brownstein, Catherine A
- Beggs, Alan H
- Agrawal, Pankaj B
Producer: 20200612
In:
European journal of human genetics : EJHG vol. 27
Availability: No items available.
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15.
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Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. [electronic resource] by
- Zou, Fanggeng
- McWalter, Kirsty
- Schmidt, Lindsay
- Decker, Amy
- Picker, Jonathan D
- Lincoln, Sharyn
- Sweetser, David A
- Briere, Lauren C
- Harini, Chellamani
- Marsh, Eric
- Medne, Livija
- Wang, Raymond Y
- Leydiker, Karen
- Mower, Andrew
- Visser, Gepke
- Cuppen, Inge
- van Gassen, Koen L
- van der Smagt, Jasper
- Yousaf, Adeel
- Tennison, Michael
- Shanmugham, Anita
- Butler, Elizabeth
- Richard, Gabriele
- McKnight, Dianalee
Producer: 20180316
In:
Journal of neurogenetics vol. 31
Availability: No items available.
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16.
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Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. [electronic resource] by
- Ching, Michael S L
- Shen, Yiping
- Tan, Wen-Hann
- Jeste, Shafali S
- Morrow, Eric M
- Chen, Xiaoli
- Mukaddes, Nahit M
- Yoo, Seung-Yun
- Hanson, Ellen
- Hundley, Rachel
- Austin, Christina
- Becker, Ronald E
- Berry, Gerard T
- Driscoll, Katherine
- Engle, Elizabeth C
- Friedman, Sandra
- Gusella, James F
- Hisama, Fuki M
- Irons, Mira B
- Lafiosca, Tina
- LeClair, Elaine
- Miller, David T
- Neessen, Michael
- Picker, Jonathan D
- Rappaport, Leonard
- Rooney, Cynthia M
- Sarco, Dean P
- Stoler, Joan M
- Walsh, Christopher A
- Wolff, Robert R
- Zhang, Ting
- Nasir, Ramzi H
- Wu, Bai-Lin
Producer: 20100903
In:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 153B
Availability: No items available.
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17.
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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. [electronic resource] by
- Gil-Rodríguez, María Concepción
- Deardorff, Matthew A
- Ansari, Morad
- Tan, Christopher A
- Parenti, Ilaria
- Baquero-Montoya, Carolina
- Ousager, Lilian B
- Puisac, Beatriz
- Hernández-Marcos, María
- Teresa-Rodrigo, María Esperanza
- Marcos-Alcalde, Iñigo
- Wesselink, Jan-Jaap
- Lusa-Bernal, Silvia
- Bijlsma, Emilia K
- Braunholz, Diana
- Bueno-Martinez, Inés
- Clark, Dinah
- Cooper, Nicola S
- Curry, Cynthia J
- Fisher, Richard
- Fryer, Alan
- Ganesh, Jaya
- Gervasini, Cristina
- Gillessen-Kaesbach, Gabriele
- Guo, Yiran
- Hakonarson, Hakon
- Hopkin, Robert J
- Kaur, Maninder
- Keating, Brendan J
- Kibaek, María
- Kinning, Esther
- Kleefstra, Tjitske
- Kline, Antonie D
- Kuchinskaya, Ekaterina
- Larizza, Lidia
- Li, Yun R
- Liu, Xuanzhu
- Mariani, Milena
- Picker, Jonathan D
- Pié, Ángeles
- Pozojevic, Jelena
- Queralt, Ethel
- Richer, Julie
- Roeder, Elizabeth
- Sinha, Anubha
- Scott, Richard H
- So, Joyce
- Wusik, Katherine A
- Wilson, Louise
- Zhang, Jianguo
- Gómez-Puertas, Paulino
- Casale, César H
- Ström, Lena
- Selicorni, Angelo
- Ramos, Feliciano J
- Jackson, Laird G
- Krantz, Ian D
- Das, Soma
- Hennekam, Raoul C M
- Kaiser, Frank J
- FitzPatrick, David R
- Pié, Juan
Producer: 20151217
In:
Human mutation vol. 36
Availability: No items available.
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