Results
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1921.
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1922.
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1923.
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1924.
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IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. [electronic resource] by
- Dharmat, Rachayata
- Liu, Wei
- Ge, Zhongqi
- Sun, Zixi
- Yang, Lizhu
- Li, Yumei
- Wang, Keqing
- Thomas, Kandace
- Sui, Ruifang
- Chen, Rui
Producer: 20170719
In:
Investigative ophthalmology & visual science vol. 58
Availability: No items available.
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1925.
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1926.
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1927.
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1928.
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1929.
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1930.
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Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. [electronic resource] by
- Bruel, A-L
- Thevenon, J
- Huet, F
- Jean-Marcais, N
- Odent, S
- Dubourg, C
- Lehalle, D
- Tran Mau-Them, F
- Philippe, C
- Moutton, S
- Houcinat, N
- Gay, S
- Guibaud, L
- Duffourd, Y
- Rivière, J-B
- Faivre, L
- Thauvin-Robinet, C
Producer: 20191024
In:
Clinical genetics vol. 94
Availability: No items available.
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1931.
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Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment. [electronic resource] by
- JanssensdeVarebeke, Sebastien P F
- Van Camp, Guy
- Peeters, Nils
- Elinck, Ellen
- Widdershoven, Josine
- Cox, Tony
- Deben, Kristof
- Ketelslagers, Katrien
- Crins, Tom
- Wuyts, Wim
Producer: 20181226
In:
European journal of human genetics : EJHG vol. 26
Availability: No items available.
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1932.
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Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis. [electronic resource] by
- Youssefian, Leila
- Vahidnezhad, Hassan
- Mahmoudi, Hamidreza
- Saeidian, Amir Hossein
- Daneshpazhooh, Maryam
- Kamyab Hesari, Kambiz
- Zeinali, Sirous
- de Jong, Sarah Jill
- Orth, Gérard
- Blanchet-Bardon, Claudine
- Jouanguy, Emmanuelle
- Casanova, Jean-Laurent
- Uitto, Jouni
Producer: 20191031
In:
The Journal of investigative dermatology vol. 139
Availability: No items available.
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1933.
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A homozygous nonsense mutation of PLCZ1 cause male infertility with oocyte activation deficiency. [electronic resource] by
- Wang, Fengsong
- Zhang, Jingjing
- Kong, Shuai
- Li, Chanjuan
- Zhang, Zhiguo
- He, Xiaojin
- Wu, Huan
- Tang, Dongdong
- Zha, Xiaomin
- Tan, Qing
- Duan, Zongliu
- Cao, Yunxia
- Zhu, Fuxi
Producer: 20210115
In:
Journal of assisted reproduction and genetics vol. 37
Availability: No items available.
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1934.
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Role of HPC2/ELAC2 in hereditary prostate cancer. [electronic resource] by
- Wang, L
- McDonnell, S K
- Elkins, D A
- Slager, S L
- Christensen, E
- Marks, A F
- Cunningham, J M
- Peterson, B J
- Jacobsen, S J
- Cerhan, J R
- Blute, M L
- Schaid, D J
- Thibodeau, S N
Producer: 20010913
In:
Cancer research vol. 61
Availability: No items available.
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1935.
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Molecular analysis of Spanish patients with AMP deaminase deficiency. [electronic resource] by
- Rubio, J C
- Martín, M A
- Del Hoyo, P
- Bautista, J
- Campos, Y
- Segura, D
- Navarro, C
- Ricoy, J R
- Cabello, A
- Arenas, J
Producer: 20000810
In:
Muscle & nerve vol. 23
Availability: No items available.
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1936.
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1937.
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1938.
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1939.
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1940.
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