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Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. [electronic resource] by
- Slavotinek, Anne M
- Moshrefi, Ali
- Davis, Randy
- Leeth, Elizabeth
- Schaeffer, G Bradley
- Burchard, González Esteban
- Shaw, Gary M
- James, Bristow
- Ptacek, Louis
- Pennacchio, Len A
Producer: 20060926
In:
European journal of human genetics : EJHG vol. 14
Availability: No items available.
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52.
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VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans. [electronic resource] by
- Slavotinek, Anne M
- Chao, Ryan
- Vacik, Tomas
- Yahyavi, Mani
- Abouzeid, Hana
- Bardakjian, Tanya
- Schneider, Adele
- Shaw, Gary
- Sherr, Elliott H
- Lemke, Greg
- Youssef, Mohammed
- Schorderet, Daniel F
Producer: 20120514
In:
Human mutation vol. 33
Availability: No items available.
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53.
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Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination. [electronic resource] by
- Hilton, Emma N
- Manson, Forbes D C
- Urquhart, Jill E
- Johnston, Jennifer J
- Slavotinek, Anne M
- Hedera, Peter
- Stattin, Eva-Lena
- Nordgren, Ann
- Biesecker, Leslie G
- Black, Graeme C M
Producer: 20070914
In:
Human molecular genetics vol. 16
Availability: No items available.
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54.
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ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. [electronic resource] by
- Yahyavi, Mani
- Abouzeid, Hana
- Gawdat, Ghada
- de Preux, Anne-Sophie
- Xiao, Tong
- Bardakjian, Tanya
- Schneider, Adele
- Choi, Alex
- Jorgenson, Eric
- Baier, Herwig
- El Sada, Mohamad
- Schorderet, Daniel F
- Slavotinek, Anne M
Producer: 20140206
In:
Human molecular genetics vol. 22
Availability: No items available.
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55.
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Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. [electronic resource] by
- Cafiero, Concetta
- Marangi, Giuseppe
- Orteschi, Daniela
- Ali, Marwan
- Asaro, Alessia
- Ponzi, Emanuela
- Moncada, Alice
- Ricciardi, Stefania
- Murdolo, Marina
- Mancano, Giorgia
- Contaldo, Ilaria
- Leuzzi, Vincenzo
- Battaglia, Domenica
- Mercuri, Eugenio
- Slavotinek, Anne M
- Zollino, Marcella
Producer: 20160506
In:
European journal of human genetics : EJHG vol. 23
Availability: No items available.
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56.
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Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. [electronic resource] by
- Krall, Max
- Htun, Stephanie
- Schnur, Rhonda E
- Brooks, Alice S
- Baker, Laura
- de Alba Campomanes, Alejandra
- Lamont, Ryan E
- Gripp, Karen W
- Schneidman-Duhovny, Dina
- Innes, A Micheil
- Mancini, Grazia M S
- Slavotinek, Anne M
Producer: 20200615
In:
European journal of human genetics : EJHG vol. 27
Availability: No items available.
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57.
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DLX4 is associated with orofacial clefting and abnormal jaw development. [electronic resource] by
- Wu, Di
- Mandal, Shyamali
- Choi, Alex
- Anderson, August
- Prochazkova, Michaela
- Perry, Hazel
- Gil-Da-Silva-Lopes, Vera L
- Lao, Richard
- Wan, Eunice
- Tang, Paul Ling-Fung
- Kwok, Pui-yan
- Klein, Ophir
- Zhuan, Bian
- Slavotinek, Anne M
Producer: 20160517
In:
Human molecular genetics vol. 24
Availability: No items available.
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58.
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A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. [electronic resource] by
- Mendelsohn, Bryce A
- Beleford, Daniah T
- Abu-El-Haija, Aya
- Alsaleh, Norah S
- Rahbeeni, Zuhair
- Martin, Pierre-Marie
- Rego, Shannon
- Huang, Alyssa
- Capodanno, Gina
- Shieh, Joseph T
- Van Ziffle, Jessica
- Risch, Neil
- Alkuraya, Fowzan S
- Slavotinek, Anne M
Producer: 20210104
In:
American journal of medical genetics. Part A vol. 182
Availability: No items available.
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59.
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Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. [electronic resource] by
- Slavotinek, Anne M
- Mehrotra, Pavni
- Nazarenko, Irina
- Tang, Paul Ling-Fung
- Lao, Richard
- Cameron, Don
- Li, Ben
- Chu, Catherine
- Chou, Chris
- Marqueling, Ann L
- Yahyavi, Mani
- Cordoro, Kelly
- Frieden, Ilona
- Glaser, Tom
- Prescott, Trine
- Morren, Marie-Anne
- Devriendt, Koen
- Kwok, Pui-yan
- Petkovich, Martin
- Desnick, Robert J
Producer: 20130705
In:
Human molecular genetics vol. 22
Availability: No items available.
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60.
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Expansion of phenotype and genotypic data in CRB2-related syndrome. [electronic resource] by
- Lamont, Ryan E
- Tan, Wen-Hann
- Innes, A Micheil
- Parboosingh, Jillian S
- Schneidman-Duhovny, Dina
- Rajkovic, Aleksandar
- Pappas, John
- Altschwager, Pablo
- DeWard, Stephanie
- Fulton, Anne
- Gray, Kathryn J
- Krall, Max
- Mehta, Lakshmi
- Rodan, Lance H
- Saller, Devereux N
- Steele, Deanna
- Stein, Deborah
- Yatsenko, Svetlana A
- Bernier, François P
- Slavotinek, Anne M
Producer: 20170616
In:
European journal of human genetics : EJHG vol. 24
Availability: No items available.
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