Works matching IS 15524825 AND DT 2023 AND VI 191 AND IP 11

Results: 20

Effectiveness of cardiac palliative surgery for trisomy 18 patients with increased pulmonary blood flow.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2703, doi. 10.1002/ajmg.a.63401
By:
- Takai, Akari;
- Yamagishi, Masaaki;
- Ikeda, Kazuyuki;
- Sugimoto, Atsuya;
- Ichise, Eisuke;
- Maeda, Yoshinobu;
- Teramukai, Satoshi;
- Hasegawa, Tatsuji;
- Oda, Shinichiro;
- Iehara, Tomoko
Publication type:
Article
Systematic ophthalmologic evaluation in cardio‐facio‐cutaneous syndrome: A genotype–endophenotype correlation.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2783, doi. 10.1002/ajmg.a.63395
By:
- Crincoli, Emanuele;
- Leoni, Chiara;
- Viscogliosi, Germana;
- Onesimo, Roberta;
- Mattei, Roberta;
- Tartaglia, Marco;
- Catania, Fiammetta;
- Rizzo, Stanislao;
- Zampino, Giuseppe;
- Salerni, Annabella
Publication type:
Article
Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2728, doi. 10.1002/ajmg.a.63394
By:
- Viora‐Dupont, E.;
- Denommé‐Pichon, A.;
- Chevarin, M.;
- Patat, O.;
- Willems, M.;
- Bourgon, N.;
- Bruel, A.;
- Aubert‐Mucca, M.;
- Galinier, M.;
- Itier, R.;
- Decramer, S.;
- Piton, A.;
- Gerard, B.;
- Billon, C.;
- Jeunemaitre, X.;
- Duffourd, Y.;
- Callier, P.;
- Thauvin, C.;
- Philippe, C.;
- Faivre, L.
Publication type:
Article
Impact of tracheostomies on the long‐term survival of patients with trisomy 13 syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2736, doi. 10.1002/ajmg.a.63393
By:
- Tamaki, Shoko;
- Iwatani, Sota;
- Hagimoto, Shinji;
- Izumi, Ayako;
- Ikuta, Toshihiko;
- Takeoka, Emiko;
- Matsui, Sachiko;
- Mimura, Hitomi;
- Minamikawa, Shogo;
- Nakagishi, Yasuo;
- Yoshimoto, Seiji;
- Nakao, Hideto
Publication type:
Article
Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2723, doi. 10.1002/ajmg.a.63390
By:
- Taylor, Alan;
- Kashyape, Pawan S.;
- Jain, Ruchi;
- El Naofal, Maha;
- Tayoun, Ahmad Abou
Publication type:
Article
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2743, doi. 10.1002/ajmg.a.63389
By:
- Gates, Ryan W.;
- Webb, Bryn D.;
- Stevenson, David A.;
- Jabs, Ethylin Wang;
- DeFilippo, Colette;
- Ruzhnikov, Maura R. Z.;
- Tise, Christina G.
Publication type:
Article
Musculoskeletal phenotypes in 3q29 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2749, doi. 10.1002/ajmg.a.63384
By:
- Pollak, Rebecca M.;
- Tilmon, Jacob C.;
- Murphy, Melissa M.;
- Gambello, Michael J.;
- Sanchez Russo, Rossana;
- Dormans, John P.;
- Mulle, Jennifer G.
Publication type:
Article
Ear anomalies and hearing loss in patients with VACTERL association and the effect of maternal diabetes.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2693, doi. 10.1002/ajmg.a.63382
By:
- Galarreta, Carolina I.;
- Hoyt, Erin;
- Forero, Laura;
- Curry, Cynthia J.;
- Bird, Lynne M.
Publication type:
Article
Genetic syndromes are prevalent in patients with comorbid neurodevelopmental disorders and catatonia.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2716, doi. 10.1002/ajmg.a.63379
By:
- Shillington, Amelle;
- Zappia, Katherine J.;
- White, Lori;
- Fosdick, Cara;
- Erickson, Craig A.;
- Lamy, Martine;
- Dominick, Kelli C.
Publication type:
Article
A homozygous missense variant in the PLCB4 gene causes severe phenotype of auriculocondylar syndrome type 2.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2673, doi. 10.1002/ajmg.a.63375
By:
- El Fizazi, Khawla;
- Bouramtane, Abdelhamid;
- Abbassi, Meriame;
- El Asri, Yasser Ali;
- Askander, Omar;
- El Fahime, Mustapha;
- Ouldim, Karim;
- Ridal, Mohammed;
- Bouguenouch, Laila
Publication type:
Article
Epidemiology of spinal muscular atrophy caused by SMN1 deletions in Maritime Canada.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2711, doi. 10.1002/ajmg.a.63369
By:
- McKee‐Muir, Olivia;
- Dyack, Sarah;
- Taillon, Monique;
- Brock, Jo‐Ann;
- Sheriko, Jordan
Publication type:
Article
Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2757, doi. 10.1002/ajmg.a.63363
By:
- Beaman, M. Makenzie;
- Guidugli, Lucia;
- Hammer, Monia;
- Barrows, Chelsea;
- Gregor, Anne;
- Lee, Sangmoon;
- Deak, Kristen L.;
- McDonald, Marie T.;
- Jensen, Courtney;
- Zaki, Maha S.;
- Masri, Amira T.;
- Hobbs, Charlotte A.;
- Gleeson, Joseph G.;
- Cohen, Jennifer L.
Publication type:
Article
Pathogenicity analysis and splicing rescue of a classical splice site variant (c.1343+1G>T) of CNOT1 gene associated with neurodevelopmental disorders.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2775, doi. 10.1002/ajmg.a.63360
By:
- Dong, Yan;
- Li, Weiran;
- Meng, Jing;
- Wang, Ping;
- Sun, Mei;
- Zhou, Feiyu;
- Li, Dong;
- Shu, Jianbo;
- Cai, Chunquan
Publication type:
Article
Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice‐site mutation.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2768, doi. 10.1002/ajmg.a.63359
By:
- Freund, Ofek;
- Elsana, Baker;
- Agam, Nadav;
- Jean, Matan M.;
- Safran, Amit;
- Poleg, Tomer;
- Roguin, Nir;
- Gradstein, Libe;
- Tsumi, Erez;
- Birk, Ohad S.
Publication type:
Article
An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disorders.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2679, doi. 10.1002/ajmg.a.63356
By:
- Rosenberg, Amanda;
- Tian, Cuixia;
- He, Hua;
- Ulm, Elizabeth;
- Collins Ruff, Kathleen;
- B. Nagaraj, Chinmayee
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2672, doi. 10.1002/ajmg.a.62837
Publication type:
Article
The Willingness to Participate in Genetic Studies may be Genetic.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2670, doi. 10.1002/ajmg.a.62836
Publication type:
Article
Topical Gene Therapy Restores Vision in Ocular Dystrophic Epidermolysis Bullosa.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2669, doi. 10.1002/ajmg.a.62835
Publication type:
Article
Publication schedule for 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2668, doi. 10.1002/ajmg.a.62834
Publication type:
Article
Table of Contents, Volume 191A, Number 11, November 2023.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 11, p. 2665, doi. 10.1002/ajmg.a.62833
Publication type:
Article