Works matching IS 15524825 AND DT 2020 AND VI 182 AND IP 2

Results: 22

Cover Image, Volume 182A, Number 2, February 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. N.PAG, doi. 10.1002/ajmg.a.61472
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 278, doi. 10.1002/ajmg.a.61471
Publication type:
Article
Computational Approach can Increase the Power of Human Genetic Analysis.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 276, doi. 10.1002/ajmg.a.61470
Publication type:
Article
Turner syndrome in diverse populations.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 303, doi. 10.1002/ajmg.a.61461
By:
- Kruszka, Paul;
- Addissie, Yonit A.;
- Tekendo‐Ngongang, Cedrik;
- Jones, Kelly L.;
- Savage, Sarah K.;
- Gupta, Neerja;
- Sirisena, Nirmala D.;
- Dissanayake, Vajira H. W.;
- Paththinige, C. Sampath;
- Aravena, Teresa;
- Nampoothiri, Sheela;
- Yesodharan, Dhanya;
- Girisha, Katta M.;
- Patil, Siddaramappa Jagdish;
- Jamuar, Saumya Shekhar;
- Goh, Jasmine Chew‐Yin;
- Utari, Agustini;
- Sihombing, Nydia;
- Mishra, Rupesh;
- Chitrakar, Neer Shoba
Publication type:
Article
Renpenning syndrome in an Indian patient.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 293, doi. 10.1002/ajmg.a.61457
By:
- Masih, Suzena;
- Moirangthem, Amita;
- Phadke, Shubha R.
Publication type:
Article
Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 296, doi. 10.1002/ajmg.a.61447
By:
- Wei, Heming;
- Wee, Lynette W. Y.;
- Born, Bori;
- Seang, Sokheng;
- Koh, Mark J. A.;
- Yee, Ruixiang;
- Lin, Grace;
- Rafi'ee, Khadijah;
- Mey, Sithach;
- Tan, Ene‐Choo
Publication type:
Article
Providing more evidence on LZTR1 variants in Noonan syndrome patients.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 409, doi. 10.1002/ajmg.a.61445
By:
- Chinton, Josefina;
- Huckstadt, Victoria;
- Mucciolo, Mafalda;
- Lepri, Francesca;
- Novelli, Antonio;
- Gravina, Luis Pablo;
- Obregon, María Gabriela
Publication type:
Article
Marfan syndrome: Evolving organ manifestations—A 10‐year follow‐up study.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 397, doi. 10.1002/ajmg.a.61441
By:
- Vanem, Thy Thy;
- Böker, Tordis;
- Sandvik, Gunhild F.;
- Kirkhus, Eva;
- Smith, Hans‐Jørgen;
- Andersen, Kai;
- Drolsum, Liv;
- Lundby, Rigmor;
- Røe, Cecilie;
- Krohg‐Sørensen, Kirsten;
- Geiran, Odd R.;
- Paus, Benedicte;
- Rand‐Hendriksen, Svend
Publication type:
Article
A mixed methods study of physical activity and quality of life in adolescents with Turner syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 386, doi. 10.1002/ajmg.a.61439
By:
- Thompson, Talia;
- Zieba, Brianna;
- Howell, Susan;
- Karakash, William;
- Davis, Shanlee
Publication type:
Article
Receiving the news of Down syndrome in the era of prenatal testing.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 374, doi. 10.1002/ajmg.a.61438
By:
- Crombag, Neeltje MTH;
- Page‐Christiaens, Godelieve CML;
- Skotko, Brian G.;
- Graaf, Gert
Publication type:
Article
Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 365, doi. 10.1002/ajmg.a.61433
By:
- Wild, K. Taylor;
- Goldstein, Amy C.;
- Muraresku, Colleen;
- Ganetzky, Rebecca D.
Publication type:
Article
Gain‐of‐function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 328, doi. 10.1002/ajmg.a.61430
By:
- Lin, Angela E.;
- Alali, Abdulrazak;
- Starr, Lois J.;
- Shah, Nidhi;
- Beavis, Anna;
- Pereira, Elaine M.;
- Lindsay, Mark E.;
- Klugman, Susan
Publication type:
Article
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 357, doi. 10.1002/ajmg.a.61429
By:
- Lee, Chung‐Lin;
- Tan, Louis Tan Hock‐Cheong;
- Lin, Hsiang‐Yu;
- Hwu, Wuh‐Liang;
- Lee, Ni‐Chung;
- Chien, Yin‐Hsiu;
- Chuang, Chih‐Kuang;
- Wu, Mei‐Hwan;
- Wang, Jou‐Kou;
- Chu, Shao‐Yin;
- Lin, Ju‐Li;
- Lo, Fu‐Sung;
- Su, Pen‐Hua;
- Hsu, Chia‐Chi;
- Ko, Yu‐Yuan;
- Chen, Ming‐Ren;
- Chiu, Hui‐Ching;
- Lin, Shuan‐Pei
Publication type:
Article
A prenatally diagnosed case of Donnai‐Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 289, doi. 10.1002/ajmg.a.61428
By:
- Ozdemir, Halis;
- Plamondon, Jenna;
- Gaskin, Peter;
- Asoglu, Mehmet R.;
- Turan, Sifa
Publication type:
Article
NGS targeted screening of 100 Scandinavian patients with coronal synostosis.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 348, doi. 10.1002/ajmg.a.61427
By:
- Topa, Alexandra;
- Rohlin, Anna;
- Andersson, Mattias K.;
- Fehr, André;
- Lovmar, Lovisa;
- Stenman, Göran;
- Kölby, Lars
Publication type:
Article
Fetoplacental ratios in stillbirths and second trimester miscarriages.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 322, doi. 10.1002/ajmg.a.61426
By:
- McPherson, Elizabeth
Publication type:
Article
The duty to warn at‐risk relatives—The experience of genetic counselors and medical geneticists.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 314, doi. 10.1002/ajmg.a.61425
By:
- Perry, Tabitha J.;
- Patton, Samantha I.;
- Farmer, Meagan B.;
- Hurst, Christina B.;
- McGwin, Gerald;
- Robin, Nathaniel H.
Publication type:
Article
Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 338, doi. 10.1002/ajmg.a.61414
By:
- Girisha, Katta M.;
- Bhavani, Gandham S.;
- Shah, Hitesh;
- Moirangthem, Amita;
- Shukla, Anju;
- Kim, Ok‐Hwa;
- Nishimura, Gen;
- Mortier, Geert R.
Publication type:
Article
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 279, doi. 10.1002/ajmg.a.61412
By:
- Rethanavelu, Kavitha;
- Fung, Jasmine L. F.;
- Chau, Jeffrey F. T.;
- Pei, Steven L. C.;
- Chung, Claudia C. Y.;
- Mak, Christopher C. Y.;
- Luk, Ho M.;
- Chung, Brian H. Y.
Publication type:
Article
Mucopolysaccharidosis Type I Phenotypically Corrected with Edited Hematopoietic Stem Cells: Instead of altering the IDUA gene, a protein was inserted in a repurposable place in the genome known as a "safe harbor locus".
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 275, doi. 10.1002/ajmg.a.61223
Publication type:
Article
Publication schedule for 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 274, doi. 10.1002/ajmg.a.61222
Publication type:
Article
Table of Contents, Volume 182A, Number 2, February 2020.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 271, doi. 10.1002/ajmg.a.61221
Publication type:
Article