Results
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15061.
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15062.
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15063.
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15064.
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15065.
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Genotype-phenotype analysis of the branchio-oculo-facial syndrome. [electronic resource] by
- Milunsky, Jeff M
- Maher, Tom M
- Zhao, Geping
- Wang, Zhenyuan
- Mulliken, John B
- Chitayat, David
- Clemens, Michele
- Stalker, Heather J
- Bauer, Mislen
- Burch, Michele
- Chénier, Sébastien
- Cunningham, Michael L
- Drack, Arlene V
- Janssens, Sandra
- Karlea, Audrey
- Klatt, Regan
- Kini, Usha
- Klein, Ophir
- Lachmeijer, Augusta M
- Megarbane, Andre
- Mendelsohn, Nancy J
- Meschino, Wendy S
- Mortier, Geert R
- Parkash, Sandhya
- Ray, C Renai
- Roberts, Angharad
- Roberts, Amy
- Reardon, Willie
- Schnur, Rhonda E
- Smith, Rosemarie
- Splitt, Miranda
- Tezcan, Kamer
- Whiteford, Margo L
- Wong, Derek A
- Zori, Roberto
- Lin, Angela E
Producer: 20110517
In:
American journal of medical genetics. Part A vol. 155A
Availability: No items available.
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15066.
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15067.
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Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations. [electronic resource] by
- de Camargo Pinto, Louise Lapagesse
- Maluf, Sharbel Weidner
- Leistner-Segal, Sandra
- Zimmer da Silva, Camila
- Brusius-Facchin, Ana
- Burin, Maira Graef
- Brustolin, Silvia
- Llerena, Juan
- Moraes, Lucia
- Vedolin, Leonardo
- Schuch, Alice
- Giugliani, Roberto
- Schwartz, Ida Vanessa Doederlein
Producer: 20110517
In:
American journal of medical genetics. Part A vol. 155A
Availability: No items available.
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15068.
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ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. [electronic resource] by
- Cossée, Mireille
- Faivre, Laurence
- Philippe, Christophe
- Hichri, Heifa
- de Saint-Martin, Anne
- Laugel, Vincent
- Bahi-Buisson, Nadia
- Lemaitre, Jean-François
- Leheup, Bruno
- Delobel, Bruno
- Demeer, Bénédicte
- Poirier, Karine
- Biancalana, Valérie
- Pinoit, Jean-Michel
- Julia, Sophie
- Chelly, Jamel
- Devys, Didier
- Mandel, Jean-Louis
Producer: 20110517
In:
American journal of medical genetics. Part A vol. 155A
Availability: No items available.
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15069.
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15070.
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Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient. [electronic resource] by
- Tohyama, Jun
- Kato, Mitsuhiro
- Kawasaki, Sari
- Harada, Naoki
- Kawara, Hiroki
- Matsui, Takeshi
- Akasaka, Noriyuki
- Ohashi, Tsukasa
- Kobayashi, Yu
- Matsumoto, Naomichi
Producer: 20110517
In:
American journal of medical genetics. Part A vol. 155A
Availability: No items available.
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15071.
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15072.
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15073.
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15074.
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15075.
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15076.
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15077.
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15078.
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15079.
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15080.
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