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Refinado por: Base de dados/Biblioteca: PubMed Central remover Academic Search Premier remover tipo de recurso: Anais de Congresso remover
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1
Are copy-number gains in 17p11.2 not involving RAI1 still Potocki-Lupski Syndrome?
Are copy-number gains in 17p11.2 not involving RAI1 still Potocki-Lupski Syndrome?
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Ata de Congresso 		Adicionar ao Meu Espaço

Are copy-number gains in 17p11.2 not involving RAI1 still Potocki-Lupski Syndrome?

Grochowski, CM ; Potocki, L ; Lindstrand, A ; Carvalho, CMB ; Lupski, JR

EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, Vol.30 (SUPPL 1), p.440 [Periódico revisado por pares]

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2
Cytogenetically detected chromosomal inversions are rarely formed by ectopic recombination between inverted repeats
Cytogenetically detected chromosomal inversions are rarely formed by ectopic recombination between inverted repeats
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Cytogenetically detected chromosomal inversions are rarely formed by ectopic recombination between inverted repeats

Pettersson, M ; Grochowski, CM ; Eisfeldt, J ; Wincent, J ; Lupski, JR ; Ottosson, J ; Lovmar, L ; Gacic, J ; Lundberg, ES ; Nilsson, D ; Carvalho, CMB ; Lindstrand, A

EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, Vol.27, p.1137 [Periódico revisado por pares]

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3
Deciphering genomic inversions
Deciphering genomic inversions
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Deciphering genomic inversions

Grochowski, CM ; Pettersson, M ; Eisfeldt, J ; Gandhi, M ; Pehlivan, D ; Gonzaga-Jauregui, C ; Withers, M ; Stankiewicz, P ; Krepischi, ACV ; Lupski, JR ; Lindstrand, A ; Carvalho, CMB

EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, Vol.28 (SUPPL 1), p.117 [Periódico revisado por pares]

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4
Long-read genome sequencing required to resolve complex chromosomal rearrangements involving both the short and the long arm of chromosome 21
Long-read genome sequencing required to resolve complex chromosomal rearrangements involving both the short and the long arm of chromosome 21
Material Type:
Ata de Congresso 		Adicionar ao Meu Espaço

Long-read genome sequencing required to resolve complex chromosomal rearrangements involving both the short and the long arm of chromosome 21

Schuy, J ; Saether, KB ; Lisfeld, J ; Ek, M ; Grochowski, CM ; Rudolph, S ; Fuchs, S ; Neveling, K ; Hempel, M ; Hoischen, A ; Hastie, A ; Carvalho, C ; Eisfeldt, J ; Lindstrand, A

EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, Vol.32, p.606 [Periódico revisado por pares]

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