Works matching IS 00099163 AND DT 2019 AND VI 95 AND IP 4

Results: 15

ADAMTSL1 and mandibular prognathism.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 507, doi. 10.1111/cge.13519
By:
- Pruksametanan, Apitchaya;
- Intachai, Worrachet;
- Kantaputra, Piranit N.;
- Phondee, Nattapol;
- Hutsadaloi, Athiwat;
- Kawasaki, Katsushig;
- Ohazama, Atsushi;
- Ngamphiw, Chumpol;
- Tongsima, Sissades;
- Ketudat Cairns, James R.;
- Tripuwabhrut, Polbhat
Publication type:
Article
Expanding the clinical spectrum associated with PACS2 mutations.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 525, doi. 10.1111/cge.13516
By:
- Dentici, Maria L.;
- Digilio, Maria C.;
- Barresi, Sabina;
- Niceta, Marcello;
- Ciolfi, Andrea;
- Dallapiccola, Bruno;
- Tartaglia, Marco;
- Trivisano, Marina;
- Specchio, Nicola;
- Bartuli, Andrea
Publication type:
Article
Further quantitative insights into the decrease of heteroplasmy of m.3243A>G with age in leukocytes.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 542, doi. 10.1111/cge.13496
By:
- Veitia, Reiner A.
Publication type:
Article
A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre‐axial polydactyly.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 540, doi. 10.1111/cge.13495
By:
- Abdullah;
- Ahmad, Wasim;
- Ullah, Asmat;
- Umair, Muhammad;
- Jan, Abid;
- Majeed, Ayesha I.
Publication type:
Article
Assessment of pre‐implantation genetic testing for embryo aneuploidies: A SWOT analysis.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 479, doi. 10.1111/cge.13510
By:
- Alteri, Alessandra;
- Corti, Laura;
- Rabellotti, Elisa;
- Papaleo, Enrico;
- Sanchez, Ana M.;
- Viganò, Paola
Publication type:
Article
Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 462, doi. 10.1111/cge.13506
By:
- Zollino, Marcella;
- Marangi, Giuseppe;
- Giurgea, Irina;
- Whalen, Sandra;
- Macchiaiolo, Marina;
- Smigiel, Robert;
- Thibert, Ronald L.;
- Benoist, Ingrid;
- Clayton‐Smith, Jill;
- De Winter, Channa F.;
- Deckers, Stijn;
- Huisman, Sylvia;
- Kruisinga, Frea;
- Menke, Leonie;
- Hennekam, Raoul C.;
- Kempink, Dagmar;
- Lamacchia, Vittoria;
- Renieri, Alessandra;
- Nordgren, Ann;
- Routledge, Sue
Publication type:
Article
Novel mutations in WEE2: Expanding the spectrum of mutations responsible for human fertilization failure.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 520, doi. 10.1111/cge.13505
By:
- Zhang, Zhihua;
- Mu, Jian;
- Zhou, Zhou;
- Chen, Biaobang;
- Wang, Wenjing;
- Zhao, Lin;
- Dong, Jie;
- Sang, Qing;
- Zhao, Junli;
- Wu, Ling;
- Yan, Zheng;
- Kuang, Yanping;
- Li, Bin;
- Sun, Xiaoxi;
- Wang, Lei
Publication type:
Article
Constitutional mosaicism in RASA1‐related capillary malformation‐arteriovenous malformation.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 516, doi. 10.1111/cge.13499
By:
- Gordo, Gema;
- Rodriguez‐Laguna, Lara;
- Agra, Noelia;
- Martinez‐Glez, Victor;
- Mendez, Pilar;
- Feito, Marta;
- Lapunzina, Pablo;
- Lopez‐Gutierrez, Juan C.
Publication type:
Article
Newly identified set of obesity‐related genotypes and abdominal fat influence the risk of insulin resistance in a Korean population.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 488, doi. 10.1111/cge.13509
By:
- Kim, Minjoo;
- Yoo, Hye Jin;
- Lee, Jong Ho;
- Jeong, Sarang;
- An, Hyoeun;
- Jee, Sun Ha
Publication type:
Article
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 496, doi. 10.1111/cge.13507
By:
- Radley, Jessica A.;
- Cox, Helen;
- Vogt, Julie;
- Morton, Jenny;
- Cooper, Nicola;
- Elmslie, Frances F.;
- Balasubramanian, Meena;
- O'Sullivan, Rory B.G.;
- Turton, Sarah E.;
- Jones, Elizabeth;
- Clayton‐Smith, Jill;
- Smithson, Sarah;
- Sansbury, Francis H.;
- Lachlan, Katherine;
- Rankin, Julia;
- Willoughby, Josh
Publication type:
Article
Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 537, doi. 10.1111/cge.13492
By:
- Mahmoud, Iman G.;
- Elkhateeb, Nour M.;
- Elnaggar, Walaa;
- Sobhi, Ahmed;
- Girgis, Marian Y.;
- Kamel, Mona;
- Shaheen, Yara;
- Samaha, Mona;
- Ramadan, Areef;
- Hassan, Sawsan A.;
- Khalifa, Iman A.;
- Mossad, Fawzya;
- Al‐Menabawy, Nihal M.;
- Selim, Laila A.;
- Elmonem, Mohamed A.;
- Zaki, Maha S.;
- El‐Hawary, Bahaa;
- Zielke, Susanne;
- Rolfs, Arndt;
- Gleeson, Joseph G.
Publication type:
Article
MicroRNA single‐nucleotide polymorphisms and diabetes mellitus: A comprehensive review.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 451, doi. 10.1111/cge.13491
By:
- Zhang, Yanfen;
- Bai, Ruocen;
- Ma, Chunyan;
- Chen, Xin;
- Yang, Jun;
- Sun, Dandan;
- Liu, Chong
Publication type:
Article
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35‐year‐old man initially diagnosed with Silver‐Russell syndrome.
Published in:
2019
By:
- Midro, Alina T.;
- Panasiuk, Barbara;
- Skowroński, Rafał;
- Tommerup, Niels;
- Mehrjouy, Manna M.;
- Borys, Jan;
- Kosztyła‐Hojna, Bożena;
- Zalewska, Renata;
- Konstantynowicz, Jerzy;
- Łebkowska, Urszula;
- Cooper, Lance;
- Stankiewicz, Paweł;
- Liu, Qian;
- Scherer, Steven E.
Publication type:
Case Study
Rapid reversal of clinical down‐classification of a BRCA1 splicing variant avoiding psychological harm.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 532, doi. 10.1111/cge.13488
By:
- Burghel, George J.;
- Banks, Catherine;
- Wallace, Andrew J.;
- Smith, Miriam J.;
- Woodward, Emma R.;
- Evans, D. Gareth;
- Morgan, Robert D.;
- Turnbull, Clare
Publication type:
Article
Issue Information ‐ Editorial Board.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 449, doi. 10.1111/cge.13396
Publication type:
Article