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X
de Macena Sobreira, Nara Lygia
19  Ergebnisse:
Personensuche X
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1

Using Online Mendelian Inheritance in Man in low‐ and middl..:

de Macena Sobreira, Nara Lygia ; Repetto, Gabriela M. ; Temtamy, Samia A..
American Journal of Medical Genetics Part A.  185 (2021)  11 - p. 3284-3286 , 2021
Link: https://doi.org/10.1002/..
 
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2

IFIH1 loss-of-function variants contribute to very early-on..:

Cananzi, Mara ; Wohler, Elizabeth ; Marzollo, Antonio...
Human Genetics.  140 (2021)  9 - p. 1299-1312 , 2021
Link: https://doi.org/10.1007/..
 
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3

Next‐generation sequencing and the evolution of data sharin:

de Macena Sobreira, Nara Lygia ; Hamosh, Ada
American Journal of Medical Genetics Part A.  185 (2021)  9 - p. 2633-2635 , 2021
Link: https://doi.org/10.1002/..
 
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4

Clinical and molecular evaluation of 13 Brazilian patients ..:

Perrone, Eduardo ; Perez, Ana Beatriz Alvarez ; D'Almeida, Vânia...
American Journal of Medical Genetics Part A.  185 (2020)  4 - p. 1047-1058 , 2020
Link: https://doi.org/10.1002/..
 
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5

Gomez–López–Hernández syndrome: A case report with clinical..:

Perrone, Eduardo ; D'Almeida, Vânia ; de Macena Sobreira, Nara Lygia...
American Journal of Medical Genetics Part A.  182 (2020)  7 - p. 1761-1766 , 2020
Link: https://doi.org/10.1002/..
 
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6

A defect in myoblast fusion underlies Carey-Fineman-Ziter s..:

Di Gioia, Silvio Alessandro ; Connors, Samantha ; Matsunami, Norisada...
Nature Communications.  8 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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7

A Brazilian case of IFAP syndrome with severe congenital ic..:

Migliavacca, Michele Patricia ; Fock, Rodrigo Ambrosio ; Almeida, Nadia...
Revista Paulista de Pediatria.  41 (2023)  - p. , 2023
Link: https://doi.org/10.1590/..
 
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8

Teaching NeuroImages: Trigeminal Ganglia Hypoplasia as Imag..:

Perrone, Eduardo ; Burlin, Stênio ; D'Almeida, Vânia...
Neurology.  96 (2021)  11 - p. , 2021
Link: https://doi.org/10.1212/..
 
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9

Cytogenomic delineation and clinical follow‐up of two sibli..:

Meloni, Vera Ayres ; Guilherme, Roberta Santos ; Oliveira, Mariana Moyses...
American Journal of Medical Genetics Part A.  164 (2014)  9 - p. 2378-2384 , 2014
Link: https://doi.org/10.1002/..
 
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10

Complex toe syndactyly with characteristic facial phenotype..:

Sobreira, Nara Lygia Macena ; Cernach, Mirlene Cecilia S.P. ; Brunoni, Decio.
American Journal of Medical Genetics Part A.  146A (2008)  13 - p. 1725-1728 , 2008
Link: https://doi.org/10.1002/..
 
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11

Finlay–Marks (SEN) syndrome: A sporadic case and the deline..:

Sobreira, Nara Lygia de Macena ; Brunoni, Décio ; Cernach, Mirlene Cecília Soares Pinho.
American Journal of Medical Genetics Part A.  140A (2006)  3 - p. 300-302 , 2006
Link: https://doi.org/10.1002/..
 
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12

+IFIH1 Loss-of-function variants contribute to Very Early O..:

Cananzi, Mara ; Wohler, Elizabeth ; Marzollo, Antonio...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8423350/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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13

Gomez–López–Hernández syndrome: A case report with clinical..:

Perrone, Eduardo ; D'Almeida, Vânia ; de Macena Sobreira, Nara Lygia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8988015/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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14

Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome:

Marneros, Alexander G ; Beck, Anita E ; Turner, Emily H...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3617379.  , 2013
Link: http://www.ncbi.nlm.nih...
 
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15

A Brazilian case of IFAP syndrome with severe congenital ic..:

Migliavacca, Michele Patricia ; Fock, Rodrigo Ambrosio ; Almeida, Nadia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10108828/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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