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An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. [electronic resource] by
- Solomon, Benjamin D
- Baker, Linda A
- Bear, Kelly A
- Cunningham, Bridget K
- Giampietro, Philip F
- Hadigan, Colleen
- Hadley, Donald W
- Harrison, Steven
- Levitt, Marc A
- Niforatos, Nickie
- Paul, Scott M
- Raggio, Cathleen
- Reutter, Heiko
- Warren-Mora, Nicole
Producer: 20140424
In:
The Journal of pediatrics vol. 164
Availability: No items available.
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8.
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Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. [electronic resource] by
- Bear, Kelly A
- Solomon, Benjamin D
- Antonini, Sonir
- Arnhold, Ivo J P
- França, Marcela M
- Gerkes, Erica H
- Grange, Dorothy K
- Hadley, Donald W
- Jääskeläinen, Jarmo
- Paulo, Sabrina S
- Rump, Patrick
- Stratakis, Constantine A
- Thompson, Elizabeth M
- Willis, Mary
- Winder, Thomas L
- Jorge, Alexander A L
- Roessler, Erich
- Muenke, Maximilian
Producer: 20150121
In:
Journal of medical genetics vol. 51
Availability: No items available.
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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. [electronic resource] by
- Solomon, Benjamin D
- Bear, Kelly A
- Wyllie, Adrian
- Keaton, Amelia A
- Dubourg, Christele
- David, Veronique
- Mercier, Sandra
- Odent, Sylvie
- Hehr, Ute
- Paulussen, Aimee
- Clegg, Nancy J
- Delgado, Mauricio R
- Bale, Sherri J
- Lacbawan, Felicitas
- Ardinger, Holly H
- Aylsworth, Arthur S
- Bhengu, Ntombenhle Louisa
- Braddock, Stephen
- Brookhyser, Karen
- Burton, Barbara
- Gaspar, Harald
- Grix, Art
- Horovitz, Dafne
- Kanetzke, Erin
- Kayserili, Hulya
- Lev, Dorit
- Nikkel, Sarah M
- Norton, Mary
- Roberts, Richard
- Saal, Howard
- Schaefer, G B
- Schneider, Adele
- Smith, Erika K
- Sowry, Ellen
- Spence, M Anne
- Shalev, Stavit A
- Steiner, Carlos E
- Thompson, Elizabeth M
- Winder, Thomas L
- Balog, Joan Z
- Hadley, Donald W
- Zhou, Nan
- Pineda-Alvarez, Daniel E
- Roessler, Erich
- Muenke, Maximilian
Producer: 20130107
In:
Journal of medical genetics vol. 49
Availability: No items available.
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