Works matching IS 15524868 AND DT 2022 AND VI 190 AND IP 1

Results: 14

Cover Image, Volume 190, Number 1, March 2022.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. i, doi. 10.1002/ajmg.c.31918
Publication type:
Article
The role of cilia for hydrocephalus formation.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 47, doi. 10.1002/ajmg.c.31972
By:
- Wallmeier, Julia;
- Dallmayer, Marlene;
- Omran, Heymut
Publication type:
Article
Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like BBS6, 10, and 12 proteins.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 9, doi. 10.1002/ajmg.c.31970
By:
- Gupta, Neha;
- D'Acierno, Mariavittoria;
- Zona, Enrica;
- Capasso, Giovambattista;
- Zacchia, Miriam
Publication type:
Article
Genotype–phenotype correlates in Joubert syndrome: A review.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 72, doi. 10.1002/ajmg.c.31963
By:
- Gana, Simone;
- Serpieri, Valentina;
- Valente, Enza Maria
Publication type:
Article
OFD1: One gene, several disorders.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 57, doi. 10.1002/ajmg.c.31962
By:
- Pezzella, Nunziana;
- Bove, Guglielmo;
- Tammaro, Roberta;
- Franco, Brunella
Publication type:
Article
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 102, doi. 10.1002/ajmg.c.31973
By:
- Cappuccio, Gerarda;
- Brillante, Simona;
- Tammaro, Roberta;
- Pinelli, Michele;
- De Bernardi, Margherita Lucia;
- Gensini, Maria Grazia;
- Bijlsma, Emilia K.;
- Koopmann, Tamara T.;
- Hoffer, Mariette J. V.;
- McDonald, Kimberly;
- Hendon, Laura G.;
- Douzgou, Sofia;
- Deshpande, Charulata;
- D'Arrigo, Stefano;
- Torella, Annalaura;
- Nigro, Vincenzo;
- Franco, Brunella;
- Brunetti‐Pierri, Nicola
Publication type:
Article
Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 36, doi. 10.1002/ajmg.c.31969
By:
- Thomas, Davis C.;
- Moorthy, Janani Dakshina;
- Prabhakar, Vaishnavi;
- Ajayakumar, Ahana;
- Pitchumani, Priyanka Kodaganallur
Publication type:
Article
Unlocking the potential of the UK 100,000 Genomes Project—lessons learned from analysis of the "Congenital Malformations caused by Ciliopathies" cohort.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 5, doi. 10.1002/ajmg.c.31965
By:
- Best, Sunayna;
- Inglehearn, Chris F.;
- Watson, Christopher M.;
- Toomes, Carmel;
- Wheway, Gabrielle;
- Johnson, Colin A.
Publication type:
Article
Table of Contents, Volume 190, Number 1, March 2022.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 1, doi. 10.1002/ajmg.c.31918
Publication type:
Article
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 89, doi. 10.1002/ajmg.c.31968
By:
- Kos, Renate;
- Israëls, Joël;
- van Gogh, Christine D. L.;
- Altenburg, Josje;
- Diepenhorst, Sandra;
- Paff, Tamara;
- Boon, Elles M. J.;
- Micha, Dimitra;
- Pals, Gerard;
- Neerincx, Anne H.;
- Maitland‐van der Zee, Anke H.;
- Haarman, Eric G.
Publication type:
Article
Chronic airway disease in primary ciliary dyskinesia—spiced with geno–phenotype associations.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 20, doi. 10.1002/ajmg.c.31967
By:
- Nielsen, Kim G;
- Holgersen, Mathias G;
- Crowley, Suzanne;
- Marthin, June K
Publication type:
Article
Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 121, doi. 10.1002/ajmg.c.31966
By:
- Forsyth, RaeLynn;
- Parisi, Melissa A.;
- Altintas, Burak;
- Malicdan, May Christine;
- Vilboux, Thierry;
- Knoll, Jasmine;
- Brooks, Brian P.;
- Zein, Wadih M.;
- Gahl, William A.;
- Toro, Camilo;
- Gunay‐Aygun, Meral
Publication type:
Article
Publication schedule for 2022.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 3, doi. 10.1002/ajmg.c.31919
Publication type:
Article
Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 1, p. 109, doi. 10.1002/ajmg.c.31964
By:
- Olinger, Eric;
- Phakdeekitcharoen, Pran;
- Caliskan, Yasar;
- Orr, Sarah;
- Mabillard, Holly;
- Pickles, Charles;
- Tse, Yincent;
- Wood, Katrina;
- Sayer, John A.
Publication type:
Article