Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus (English)
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- New search for: Vasudevan, Pradeep
- New search for: Islam, Lily
- New search for: Goel, Himanshu
- New search for: Bain, Nicole
- New search for: Park, Soo‐Mi
- New search for: Mohammed, Shehla
- New search for: Dieterich, Klaus
- New search for: Coutton, Charles
- New search for: Satre, Véronique
- New search for: Vieville, Gaëlle
- New search for: Donaldson, Alan
- New search for: Beneteau, Claire
- New search for: Ghoumid, Jamal
- New search for: Van Den Bogaert, Kris
- New search for: Boogaerts, Anneleen
- New search for: Boudry, Elise
- New search for: Vanlerberghe, Clémence
- New search for: Petit, Florence
- New search for: Bernardini, Laura
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- New search for: Mattina, Teresa
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- New search for: Ferrero, Giovanni Battista
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In:
American Journal of Medical Genetics Part A
;
188
, 12
;
3492-3504
;
2022
- Article (Journal) / Electronic Resource
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Title:Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
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Contributors:Sy, Mary R. ( author ) / Chauhan, Jaynee ( author ) / Prescott, Katrina ( author ) / Imam, Aliza ( author ) / Kraus, Alison ( author ) / Beleza, Ana ( author ) / Salkeld, Lee ( author ) / Hosdurga, Saraswati ( author ) / Parker, Michael ( author ) / Vasudevan, Pradeep ( author )
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Published in:American Journal of Medical Genetics Part A ; 188, 12 ; 3492-3504
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Publisher:
- New search for: John Wiley & Sons, Inc.
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Publication date:2022-12-01
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Size:13 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 188, Issue 12
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.
- 3379
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Table of Contents, Volume 188A, Number 12 December 2022| 2022
- 3383
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Publication schedule for 2022| 2022
- 3384
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GnRH Therapy may Improve Cognitive Function in Down Syndrome| 2022
- 3385
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Extra X or Y Chromosome may put Men at Higher Risk for Several Conditions| 2022
- 3387
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In This Issue| 2022
- 3389
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Speech and language development and genotype–phenotype correlation in 49 individuals with KAT6A syndromeSt John, Miya / Amor, David J. / Morgan, Angela T. et al. | 2022
- 3401
-
Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory corticesBruce, Laurel / Peter, Beate et al. | 2022
- 3416
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The experience of one pediatric geneticist with telemedicine‐based clinical diagnosisCampbell, Ian M. / Crowley, T. Blaine / Keena, Beth / Donoghue, Sarah / McManus, Morgan L. / Zackai, Elaine H. et al. | 2022
- 3423
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The role of the University of Padua medical school in the study of conjoined twins between 18th and early 19th centuryMagno, Giovanni / Boer, Lucas L. / Oostra, Roelof‐Jan / Zanatta, Alberto et al. | 2022
- 3432
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The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndromeFennell, Andrew Paul / Baxter, Anne Elizabeth / Berkovic, Samuel Frank / Ellaway, Carolyn Jane / Forwood, Caitlin / Hildebrand, Michael Stephen / Kumble, Smitha / McKeown, Colina / Mowat, David / Poke, Gemma et al. | 2022
- 3448
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Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosisDiGiovanna, John J. / Randall, Grant / Edelman, Alexandra / Allawh, Rina / Xiong, Michael / Tamura, Deborah / Khan, Sikandar G. / Rizza, Elizabeth R. H. / Reynolds, James C. / Paul, Scott M. et al. | 2022
- 3463
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Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genesElsana, Baker / Imtirat, Ahed / Yagev, Ronit / Gradstein, Libe / Majdalani, Pierre / Iny, Oren / Parvari, Ruti / Tsumi, Erez et al. | 2022
- 3469
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TBX6 as a cause of a combined skeletal‐kidney dysplasia syndromeLi, Guozhuang / Strong, Alanna / Wang, Haojun / Kim, Ji‐Sun / Watson, Deborah / Zhao, Sen / Vaccaro, Courtney / Hartung, Erum / Hakonarson, Hakon / Zhang, Terry Jianguo et al. | 2022
- 3482
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Reduced resource utilization with early use of next‐generation sequencing in rare genetic diseases in an Asian cohortNazeha, Nuraini / Koh, Ai Ling / Kam, Sylvia / Lim, Jiin Ying / Goh, Denise Li Meng / Jamuar, Saumya Shekhar / Graves, Nicholas et al. | 2022
- 3492
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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plusSy, Mary R. / Chauhan, Jaynee / Prescott, Katrina / Imam, Aliza / Kraus, Alison / Beleza, Ana / Salkeld, Lee / Hosdurga, Saraswati / Parker, Michael / Vasudevan, Pradeep et al. | 2022
- 3505
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Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio‐facio‐cutaneous syndromeShiohama, Tadashi / Fujii, Katsunori / Kosaki, Rika / Watanabe, Yoshimi / Uchida, Tomoko / Hagiwara, Sho / Kinoshita, Kaori / Sugita, Katsuo / Aoki, Yoko / Shimojo, Naoki et al. | 2022
- 3510
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Sacral abnormalities including caudal appendage, skeletal dysplasia, and prenatal cardiomyopathy associated with a pathogenic TAB2 variant in a 3‐generation familyKoene, Saskia / Klerx‐Melis, Floortje / Roest, Arno Anne Willem / Kleijwegt, Maarten Cornelis / Bootsma, Marianne / Haak, Monique C. / van Haeringen, Meike Heleen / Ruivenkamp, Claudia Antoinette Laetitia / Nibbeling, Esther Anne Rieky / van Haeringen, Arie et al. | 2022
- 3516
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Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brainKeehan, Laura / Haviland, Isabel / Gofin, Yoel / Swanson, Lindsay C. / El Achkar, Christelle Moufawad / Schreiber, John / VanNoy, Grace E. / O'Heir, Emily / O'Donnell‐Luria, Anne / Lewis, Richard Alan et al. | 2022
- 3525
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Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomasAtzmony, Lihi / Ugwu, Nelson / Bercovitch, Lionel G. / Robinson‐Bostom, Leslie / Ko, Christine J. / Myung, Peggy / Choate, Keith A. et al. | 2022
- 3531
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Upper motor neuron signs and early onset gait abnormalities in young children with bi‐allelic VWA1 variantsGable, Dustin L. / Mo, Alisa / Estrella, Elicia / Saffari, Afshin / Ghosh, Partha S. / Ebrahimi‐Fakhari, Darius et al. | 2022
- 3535
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Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case reportReeves, Ashley / Ojha, Kanwal / Meddaugh, Hannah / Zambrano, Regina M. et al. | 2022
- 3540
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Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variantsMazel, Benoit / Mallet, Delphine / Roucher‐Boulez, Florence / Signor, Candace Ben / Bournez, Marie / Darmency, Véronique / Bourgeois, Valentin / Poe, Charlotte / El Khabbaz, Fares / Vitobello, Antonio et al. | 2022
- 3546
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GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delayWilliams, Aaron / Cooney, Erin / Segal, Gabrielle / Narayanan, Swetha / Morand, Megan / Agadi, Satish et al. | 2022
- 3550
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Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy‐like lymphedema: First prenatal case reportHuynh, Minh‐Tuan / Degre, Sophie / Joly‐Helas, Géraldine / Bréon, Cathy / Potel, Stéphanie / Chambon, Pascal / Bouligand, Jérôme / Layet, Valérie et al. | 2022
- 3555
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Underrepresentation of the term cerebral palsy in clinical genetics databasesSrivastava, Siddharth / Lewis, Sara A. / Kruer, Michael C. / Poduri, Annapurna et al. | 2022
- 3558
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The perinatal phenotype of Troyer syndrome: Case report and literature reviewBryson, Lisa / Anderson, Laurie / Pagan, Judith / Hamzollari, Rossella / Hamilton, Mark J. et al. | 2022
- 3563
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A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotypeVeltra, Danai / Kosma, Konstantina / Papavasiliou, Antigoni / Tilemis, Faidon‐Nikolaos / Traeger‐Synodinos, Joanne / Sofocleous, Christalena et al. | 2022
- 3567
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Mystery solved after 23 years: M syndrome is PIGT‐associated multiple congenital anomalies‐hypotonia‐seizures syndrome 3Nóbrega, Paulo Ribeiro / Castro, Matheus Augusto Araújo / de Paiva, Anderson Rodrigues Brandão / Kok, Fernando et al. | 2022
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Possible marfanoid habitus of Cesare Alessandro Scaglia di Verrua evidenced in portraits of Sir Anthony van Dyck?Homolak, Jan / Kodvanj, Ivan et al. | 2022