Parental request for familial carrier testing in early childhood: The genetic counseling perspective (English)
- New search for: Southwick, Sabrina V.
- New search for: MacFarlane, Ian M.
- New search for: Long, Catherine
- New search for: Pillai, Nishitha R.
- New search for: Tryon, Rebecca
- New search for: Southwick, Sabrina V.
- New search for: MacFarlane, Ian M.
- New search for: Long, Catherine
- New search for: Pillai, Nishitha R.
- New search for: Tryon, Rebecca
In:
Clinical Genetics
;
105
, 3
;
262-272
;
2024
- Article (Journal) / Electronic Resource
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Title:Parental request for familial carrier testing in early childhood: The genetic counseling perspective
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Contributors:Southwick, Sabrina V. ( author ) / MacFarlane, Ian M. ( author ) / Long, Catherine ( author ) / Pillai, Nishitha R. ( author ) / Tryon, Rebecca ( author )
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Published in:Clinical Genetics ; 105, 3 ; 262-272
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Publisher:
- New search for: Blackwell Publishing Ltd
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Publication date:2024-03-01
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Size:11 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 105, Issue 3
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.
- 231
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Issue Information| 2024
- 233
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Epidemiological and clinical features of malignant hyperthermia: A scoping reviewCong, Zhukai / Wan, Tingting / Wang, Jiechu / Feng, Luyang / Cao, Cathy / Li, Zhengqian / Wang, Xiaoxiao / Han, Yongzheng / Zhou, Yang / Gao, Ya et al. | 2024
- 243
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Digenic inheritance accounts for phenotypic variability in amelogenesis imperfectaYang, Yi / Qin, Man / Zhao, Yuming / Wang, Xin et al. | 2024
- 254
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A novel RNF125 variant associated with Tenorio syndrome alters ubiquitin chain bindingBarzak, Fareeda M. / Lu, Anita / Geltzeiler, Alexa R. / Ledgerwood, Elizabeth C. / Chung, Wendy K. / Day, Catherine L. et al. | 2024
- 262
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Parental request for familial carrier testing in early childhood: The genetic counseling perspectiveSouthwick, Sabrina V. / MacFarlane, Ian M. / Long, Catherine / Pillai, Nishitha R. / Tryon, Rebecca et al. | 2024
- 273
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A de novo variant in RERE causes autistic behavior by disrupting related genes and signaling pathwayLi, Qian / Li, Wenbo / Hu, Kaiyue / Wang, Yaqian / Li, Yang / Xu, Jiawei et al. | 2024
- 283
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ERBB3 deficiency causes a multisystemic syndrome in human patient and zebrafishLiu, Keqiang / Chen, Ru / Zhang, Minzhong / Gong, Yiming / Wang, Yong / Cai, Wei et al. | 2024
- 294
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CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature reviewAl‐Kateb, Hussam / Au, P. Y. Billie / Berland, Siren / Cogne, Benjamin / Demurger, Florence / Fluss, Joel / Isidor, Bertrand / Frank, L. Matthew / Varvagiannis, Konstantinos / Koolen, David A. et al. | 2024
- 302
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A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper‐IgD syndrome‐like phenotypeJairaman, Amit / Badiger, Vaishnavi Ashok / Raj, Spoorthy / Nair, Karthik Vijay / Balan, Suma / Narayanan, Dhanya Lakshmi et al. | 2024
- 308
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Genetic identification of familial hypercholesterolemia within whole genome sequences in 6820 newbornsZhou, Yingchao / Luo, Gang / Zhang, Ai / Gao, Shuai / Tang, Yaqi / Du, Zhanhui / Pan, Silin et al. | 2024
- 313
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CATSHL syndrome, a new family and phenotypic expansionCannova, Silvia / Meossi, Camilla / Grilli, Federico / Milani, Donatella / Alberti, Federica / Cesaretti, Claudia / Marchisio, Paola Giovanna / Crosti, Francesca / Pezzani, Lidia et al. | 2024
- 317
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CCDC65, encoding a component of the axonemal Nexin‐Dynein regulatory complex, is required for sperm flagellum structure in humansJreijiri, Fadwa / Cavarocchi, Emma / Amiri‐Yekta, Amir / Cazin, Caroline / Hosseini, Seyedeh‐Hanieh / El Khouri, Elma / Patrat, Catherine / Thierry‐Mieg, Nicolas / Ray, Pierre F. / Dulioust, Emmanuel et al. | 2024
- 323
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Functional analysis of the CTNS gene exonic variants predicted to affect splicingLi, Changying / Zhang, Ruixiao / Pan, Fengjiao / Xin, Qing / Shi, Xiaomeng / Guo, Wencong / Qiao, Dan / Wang, Zhi / Zhang, Yiyin / Liu, Xuyan et al. | 2024
- 329
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Assessing type I collagen expression and quality in cellular models of osteogenesis imperfectaUdupa, Prajna / Shrikondawar, Akshaykumar Nanaji / Ranjan, Akash / Ghosh, Debasish Kumar et al. | 2024
- 335
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Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian familiesStrafella, Claudia / Colantoni, Luca / Megalizzi, Domenica / Trastulli, Giulia / Piorgo, Emma Proietti / Primiano, Guido / Sancricca, Cristina / Ricci, Giulia / Siciliano, Gabriele / Caltagirone, Carlo et al. | 2024
- 340
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Inheritance of c.628‐6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variantsPijuan, Jordi / Vilanova‐Adell, Alba / Casas‐Alba, Dídac / Campistol, Jaume / Hoenicka, Janet / Palau, Francesc et al. | 2024