Ocular manifestations in a cohort of 43 patients with KBG syndrome (English)
- New search for: Carter, Drake C.
- New search for: Kierzkowska, Ola
- New search for: Sarino, Kathleen
- New search for: Guo, Lily
- New search for: Marchi, Elaine
- New search for: Lyon, Gholson J.
- New search for: Carter, Drake C.
- New search for: Kierzkowska, Ola
- New search for: Sarino, Kathleen
- New search for: Guo, Lily
- New search for: Marchi, Elaine
- New search for: Lyon, Gholson J.
In:
American Journal of Medical Genetics Part A
;
194
, 4
;
2024
- Article (Journal) / Electronic Resource
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Title:Ocular manifestations in a cohort of 43 patients with KBG syndrome
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Contributors:Carter, Drake C. ( author ) / Kierzkowska, Ola ( author ) / Sarino, Kathleen ( author ) / Guo, Lily ( author ) / Marchi, Elaine ( author ) / Lyon, Gholson J. ( author )
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Published in:
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Publisher:
- New search for: John Wiley & Sons, Inc.
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Publication date:2024-04-01
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Size:8 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Keywords:
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Source:
Table of contents – Volume 194, Issue 4
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
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First Gene Therapies Approved for Sickle Cell Disease| 2024
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Table of Contents, Volume 194A, Number 4, April 2024| 2024
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Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 geneQuilichini, Juliette / Perol, Sandrine / Cuisset, Laurence / Grotto, Sarah / Fouveaut, Corinne / Barbot, Jean Claude / Verebi, Camille / Jordan, Pénélope / Héron, Delphine / Molina‐Gomes, Denise et al. | 2024
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Growing up with Marshall syndrome: A case report from infancy to age 12.5 yearsHarris, Susan R. et al. | 2024
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A patient with Pitt–Hopkins syndrome with concomitant common variable immunodeficiencyMalik, Shahzara / Jeanpierre, Latoya / Cianferoni, Antonella / Ruffner, Melanie / Sullivan, Kathleen E. et al. | 2024
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Letter to the Editor regarding “New cases of recently described Thauvin‐Robinet‐Faivre syndrome with a novel homozygous FIBP gene variant” by Kılıç and Koşukçu, “An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant” by Yüksel Ülker et al. and “Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings” by Duzenli et al.Duzenli, Tarik / Sezer, Abdullah / Percin, Ferda Emriye et al. | 2024
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Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variantsStanley, Helen M. / White, Brian R. / LaRosa, Christopher J. / Cocalis, Mark W. / Gaynor, J. William / Strong, Alanna / Gangaram, Balram et al. | 2024
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Ocular manifestations in a cohort of 43 patients with KBG syndromeCarter, Drake C. / Kierzkowska, Ola / Sarino, Kathleen / Guo, Lily / Marchi, Elaine / Lyon, Gholson J. et al. | 2024
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The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacyPierpont, Elizabeth I. / Bennett, Anton M. / Schoyer, Lisa / Stronach, Beth / Anschutz, April / Borrie, Sarah C. / Briggs, Benjamin / Burkitt‐Wright, Emma / Castel, Pau / Cirstea, Ion C. et al. | 2024
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RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31Marshall, Aren E. / Lemire, Gabrielle / Liang, Yijing / Davila, Jorge / Couse, Madeline / Boycott, Kym M. / Kernohan, Kristin D. / Care4Rare Canada Consortium et al. | 2024
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