Results
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801.
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802.
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803.
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A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism. [electronic resource] by
- Cherif Ben Abdallah, Lamia
- Lakhoua, Youssef
- Nagara, Majdi
- Khiari, Karima
- Elouej, Sahar
- Messaoud, Olfa
- Bouyacoub, Yosra
- Romdhane, Lilia
- Turki, Zinet
- Abdelhak, Sonia
- Ben Abdallah, Nejib
Producer: 20150708
In:
Hormone research in paediatrics vol. 82
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804.
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805.
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806.
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Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene. [electronic resource] by
- Farashi, Samaneh
- Vakili, Shadi
- Garous, Negin F
- Ashki, Mehri
- Forouzesh Pour, Fatemeh
- Zeinali, Fatemeh
- Rad, Fariba
- Imanian, Hashem
- Azarkeivan, Azita
- Najmabadi, Hossein
Producer: 20161014
In:
Hemoglobin vol. 40
Availability: No items available.
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807.
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808.
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Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. [electronic resource] by
- Youssefian, Leila
- Vahidnezhad, Hassan
- Saeidian, Amir Hossein
- Touati, Andrew
- Sotoudeh, Soheila
- Mahmoudi, Hamidreza
- Mansouri, Parvin
- Daneshpazhooh, Maryam
- Aghazadeh, Nessa
- Hesari, Kambiz Kamyab
- Basiri, Mohammadreza
- Londin, Eric
- Kumar, Gaurav
- Zeinali, Sirous
- Fortina, Paolo
- Uitto, Jouni
Producer: 20200323
In:
Human mutation vol. 40
Availability: No items available.
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809.
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810.
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PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability. [electronic resource] by
- Kawarai, Toshitaka
- Yamazaki, Hiroki
- Miyamoto, Ryosuke
- Takamatsu, Naoko
- Mori, Atsuko
- Osaki, Yusuke
- Orlacchio, Antonio
- Nodera, Hiroyuki
- Hashiguchi, Akihiro
- Higuchi, Yujiro
- Yoshimura, Akiko
- Takashima, Hiroshi
- Kaji, Ryuji
Producer: 20200703
In:
Neuromuscular disorders : NMD vol. 29
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811.
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812.
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813.
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Sjögren-Larsson syndrome in Brazil is caused by a common c.1108-1G-->C splice-site mutation in the ALDH3A2 gene. [electronic resource] by
- Auada, M P
- Puzzi, M B
- Cintra, M L
- Steiner, C E
- Alexandrino, F
- Sartorato, E L
- Aguiar, T S
- Azulay, R D
- Carney, G
- Rizzo, W B
Producer: 20060809
In:
The British journal of dermatology vol. 154
Availability: No items available.
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814.
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Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12. [electronic resource] by
- Kenton, Alexander B
- Sanchez, Ximena
- Coveler, Karen J
- Makar, Kimberly A
- Jimenez, Shinawe
- Ichida, Fukiko
- Murphy, Ross T
- Elliott, Perry M
- McKenna, William
- Bowles, Neil E
- Towbin, Jeffrey A
- Bowles, Karla R
Producer: 20050113
In:
Molecular genetics and metabolism vol. 82
Availability: No items available.
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815.
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816.
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817.
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818.
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819.
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An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome. [electronic resource] by
- Pearson, Toni
- Curtis, Fiona
- Al-Eyadhy, Ayman
- Al-Tamemi, Salem
- Mazer, Bruce
- Dror, Yigal
- Abish, Sharon
- Bale, Sherri
- Compton, John
- Ray, Reena
- Scott, Patrick
- Der Kaloustian, Vazken M
Producer: 20080903
In:
American journal of medical genetics. Part A vol. 146A
Availability: No items available.
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820.
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