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1621.
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1630.
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Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus. [electronic resource] by
- Chacón-Camacho, Oscar F
- Salgado-Medina, Acatzin
- Alcaraz-Lares, Nayeli
- López-Moreno, Daniel
- Barragán-Arévalo, Tania
- Nava-Castañeda, Angel
- Rodríguez-Uribe, Genaro
- Lieberman, Esther
- Rodríguez-Cabrera, Lourdes
- González-Del Angel, Ariadna
- Borbolla, Ana María
- Fernández-Hernández, Liliana
- Graue-Hernández, Enrique O
- Zenteno, Juan Carlos
Producer: 20190617
In:
Gene vol. 706
Availability: No items available.
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1631.
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Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants. [electronic resource] by
- Colombo, Elisa A
- Elcioglu, Nursel H
- Graziano, Claudio
- Farinelli, Pamela
- Di Fede, Elisabetta
- Neri, Iria
- Facchini, Elena
- Greco, Mariangela
- Gervasini, Cristina
- Larizza, Lidia
Producer: 20191014
In:
Journal of clinical immunology vol. 38
Availability: No items available.
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1632.
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Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis. [electronic resource] by
- Morice-Picard, Fanny
- Michaud, Vincent
- Lasseaux, Eulalie
- Rezvani, Hamid Reza
- Plaisant, Claudio
- Bessis, Didier
- Leauté-Labrèze, Christine
- Arveiler, Benoit
- Taieb, Alain
- Trimouille, Aurélien
- Boralevi, Franck
Producer: 20210106
In:
The Journal of investigative dermatology vol. 140
Availability: No items available.
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1633.
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1634.
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1635.
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Intrauterine herpes simplex virus infections. [electronic resource] by
- Hutto, C
- Arvin, A
- Jacobs, R
- Steele, R
- Stagno, S
- Lyrene, R
- Willett, L
- Powell, D
- Andersen, R
- Werthammer, J
Producer: 19870205
In:
The Journal of pediatrics vol. 110
Availability: No items available.
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1636.
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1638.
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1639.
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Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. [electronic resource] by
- Gripp, Karen W
- Lin, Angela E
- Nicholson, Linda
- Allen, William
- Cramer, Andrea
- Jones, Kenneth L
- Kutz, Wendy
- Peck, Dawn
- Rebolledo, Michael A
- Wheeler, Patricia G
- Wilson, William
- Al-Rahawan, Mohamad M
- Stabley, Deborah L
- Sol-Church, Katia
Producer: 20070928
In:
American journal of medical genetics. Part A vol. 143A
Availability: No items available.
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1640.
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A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East. [electronic resource] by
- Sander, C S
- Salman, N
- van Geel, M
- Broers, J L V
- Al-Rahmani, A
- Chedid, F
- Hausser, I
- Oji, V
- Al Nuaimi, K
- Berger, T G
- Verstraeten, V L R M
Producer: 20081231
In:
The British journal of dermatology vol. 159
Availability: No items available.
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