نتائج البحث

Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy.

• Authors : Aprahamian, Raffi¹ (AUTHOR) ; Yammine, T.¹ (AUTHOR); Salem, N.¹ (AUTHOR)

• Source: Ophthalmic Genetics. Dec 2021, Vol. 42 Issue 6, p744-746. 3p.

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Homozygous haplotype deficiency in Manech Tête Rousse dairy sheep revealed a nonsense variant in MMUT gene affecting newborn lamb viability

• Authors : Braiek, Maxime Ben; Moreno-Romieux, Carole; André, Céline ...

Subjects: Ovis aries; homozygous haplotype deficiency; MTRDHH1

• Source: https://hal.inrae.fr/hal-04158620 ; 2023.

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Severe Untreated Scoliosis and Early Onset Breast Cancer in a Patient with Neurofibromatosis Associated with a Nonsense Variant of NF1 Gene

• Authors : Reinhold,Vivian; Saarinen,Antti; Suominen,Eetu

Subjects: Orthopedic Research and Reviews

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Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts.

• Authors : Berry, Vanita^1,2 (AUTHOR) ; Pontikos, Nikolas^1,2 (AUTHOR); Ionides, Alex² (AUTHOR)

• Source: Ophthalmic Genetics. Apr2022, Vol. 43 Issue 2, p218-223. 6p.

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A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome.

• Authors : Senthil, Sirisha¹ (AUTHOR); Sharma, Sarmeela² (AUTHOR); Vishwakarma, Sushma² (AUTHOR)

• Source: Ophthalmic Genetics. Feb2021, Vol. 42 Issue 1, p28-34. 7p.

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Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations.

• Authors : Naruse, Hiroya¹ (AUTHOR); Ishiura, Hiroyuki¹ (AUTHOR); Mitsui, Jun^1,2 (AUTHOR)

• Source: Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. Nov 2021, Vol. 22 Issue 7/8, p576-578. 3p.

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A Novel Variant in the Desmoplakin Gene in One Case of the Rare Carvajal Syndrome with Dilated Cardiomyopathy: A Case Report and Literature Review

• Authors : Zhao,Xiu-Jie; Bai,Chun-Yu; Li,Xiao-Yan

Subjects: Clinical; Cosmetic and Investigational Dermatology

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Sequencing and analysis of an Irish human genome

• Authors : Tong, Pin; Prendergast, James GD; Lohan, Amanda J

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