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Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
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Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

Yatsenko, S A ; Cheung, S W ; Scott, D A ; Nowaczyk, M J M ; Tarnopolsky, M ; Naidu, S ; Bibat, G ; Patel, A ; Leroy, J G ; Scaglia, F ; Stankiewicz, P ; Lupski, J R

Journal of medical genetics, 2005-04, Vol.42 (4), p.328-335 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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2
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
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Report 		Adicionar ao Meu Espaço

Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

Yatsenko, S A ; Cheung, S W ; Scott, D A ; Nowaczyk, M J M ; Tarnopolsky, M ; Naidu, S ; Bibat, G ; Patel, A ; Leroy, J G ; Scaglia, F ; Stankiewicz, P ; Lupski, J R

Journal of medical genetics, 2005, Vol.42 (4), p.328-335

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3
Med12 gain-of-function mutation causes leiomyomas and genomic instability
Med12 gain-of-function mutation causes leiomyomas and genomic instability
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Med12 gain-of-function mutation causes leiomyomas and genomic instability

Mittal, Priya ; Shin, Yong-Hyun ; Yatsenko, Svetlana A ; Castro, Carlos A ; Surti, Urvashi ; Rajkovic, Aleksandar

The Journal of clinical investigation, 2015-08, Vol.125 (8), p.3280-3284 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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4
Reproductive genetics and the aging male
Reproductive genetics and the aging male
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Reproductive genetics and the aging male

Yatsenko, Alexander N. ; Turek, Paul J.

Journal of assisted reproduction and genetics, 2018-06, Vol.35 (6), p.933-941 [Periódico revisado por pares]

New York: Springer US

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5
Effect of prebiotics administered during embryo development on mitochondria in intestinal and immune tissues of adult broiler chickens
Effect of prebiotics administered during embryo development on mitochondria in intestinal and immune tissues of adult broiler chickens
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Effect of prebiotics administered during embryo development on mitochondria in intestinal and immune tissues of adult broiler chickens

Dunislawska, Aleksandra ; Bełdowska, Aleksandra ; Yatsenko, Olha ; Siwek, Maria

Poultry science, 2023-06, Vol.102 (6), p.102663-102663, Article 102663 [Periódico revisado por pares]

England: Elsevier Inc

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6
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability
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Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability

AlAsiri, Saleh ; Basit, Sulman ; Wood-Trageser, Michelle A ; Yatsenko, Svetlana A ; Jeffries, Elizabeth P ; Surti, Urvashi ; Ketterer, Deborah M ; Afzal, Sibtain ; Ramzan, Khushnooda ; Faiyaz-Ul Haque, Muhammad ; Jiang, Huaiyang ; Trakselis, Michael A ; Rajkovic, Aleksandar

The Journal of clinical investigation, 2015-01, Vol.125 (1), p.258-262 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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7
Genomic testing for copy number and single nucleotide variants in spermatogenic failure
Genomic testing for copy number and single nucleotide variants in spermatogenic failure
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Genomic testing for copy number and single nucleotide variants in spermatogenic failure

Hardy, J. ; Pollock, N. ; Gingrich, T. ; Sweet, P. ; Ramesh, A. ; Kuong, J. ; Basar, A. ; Jiang, H. ; Hwang, K. ; Vukina, J. ; Jaffe, T. ; Olszewska, M. ; Kurpisz, M. ; Yatsenko, A. N.

Journal of assisted reproduction and genetics, 2022-09, Vol.39 (9), p.2103-2114 [Periódico revisado por pares]

New York: Springer US

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8
Tissue-specific regulation of translational readthrough tunes functions of the traffic jam transcription factor
Tissue-specific regulation of translational readthrough tunes functions of the traffic jam transcription factor
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Tissue-specific regulation of translational readthrough tunes functions of the traffic jam transcription factor

Karki, Prajwal ; Carney, Travis D ; Maracci, Cristina ; Yatsenko, Andriy S ; Shcherbata, Halyna R ; Rodnina, Marina V

Nucleic acids research, 2022-06, Vol.50 (11), p.6001-6019 [Periódico revisado por pares]

England: Oxford University Press

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9
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders
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CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders

Hu, Jie ; Liao, Jun ; Sathanoori, Malini ; Kochmar, Sally ; Sebastian, Jessica ; Yatsenko, Svetlana A ; Surti, Urvashi

Journal of neurodevelopmental disorders, 2015-08, Vol.7 (1), p.26-26, Article 26 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency
Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency
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Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency

Vanderschelden, Rachel K ; Rodriguez-Escriba, Marta ; Chan, Serena H. ; Berman, Andrea J. ; Rajkovic, Aleksandar ; Yatsenko, Svetlana A.

Journal of assisted reproduction and genetics, 2023-09, Vol.40 (9), p.2211-2218 [Periódico revisado por pares]

New York: Springer US

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