Works matching IS 00099163 AND DT 2016 AND VI 90 AND IP 3

Results: 16

Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 263, doi. 10.1111/cge.12700

By:

Ali, R.H.;
Shah, K.;
Nasir, A.;
Steyaert, W.;
Coucke, P.J.;
Ahmad, W.

Publication type:

Article

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 247, doi. 10.1111/cge.12692

By:

Bayat, A.;
Yasmeen, S.;
Lund, A.;
Nielsen, J.B.;
Møller, L.B.

Publication type:

Article

Issue Information - Editorial Board.

Published in:: Clinical Genetics, 2016, v. 90, n. 3, p. 189, doi. 10.1111/cge.12667
Publication type:: Article

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 258, doi. 10.1111/cge.12773

By:

Lange, L.;
Pagnamenta, A. T.;
Lise, S.;
Clasper, S.;
Stewart, H.;
Akha, E. S.;
Quaghebeur, G.;
Knight, S. J. L.;
Keays, D. A.;
Taylor, J. C.;
Kini, U.

Publication type:

Article

Is there a link between Holt-Oram Syndrome and 'Mardini-Nyhan' association? - need for further research.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 284, doi. 10.1111/cge.12777

By:

Sawardekar, K.P.

Publication type:

Article

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 270, doi. 10.1111/cge.12721

By:

Twigg, S.R.F.;
Ousager, L.B.;
Miller, K.A.;
Zhou, Y.;
Elalaoui, S.C.;
Sefiani, A.;
Bak, G.S;
Hove, H.;
Hansen, L.K.;
Fagerberg, C.R.;
Tajir, M.;
Wilkie, A.O.M.

Publication type:

Article

National G6PD neonatal screening program in Gaza Strip of Palestine: rationale, challenges and recommendations.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 191, doi. 10.1111/cge.12786

By:

Sirdah, M.M.;
Al‐Kahlout, M.S.;
Reading, N.S.

Publication type:

Article

Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 282, doi. 10.1111/cge.12796

By:

Shaheen, R.;
Al Tala, S.;
Ewida, N.;
Abouelhoda, M.;
Alkuraya, F.S.

Publication type:

Article

Clinical, biochemical and molecular characterization of prosaposin deficiency.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 220, doi. 10.1111/cge.12753

By:

Motta, M.;
Tatti, M.;
Furlan, F.;
Celato, A.;
Di Fruscio, G.;
Polo, G.;
Manara, R.;
Nigro, V.;
Tartaglia, M.;
Burlina, A.;
Salvioli, R.

Publication type:

Article

High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 238, doi. 10.1111/cge.12744

By:

Zhang, Q.‐J.;
Han, B.;
Lan, L.;
Zong, L.;
Shi, W.;
Wang, H.‐Y.;
Xie, L.‐Y.;
Wang, H.;
Zhao, C.;
Zhang, C.;
Yin, Z.‐F.;
Wang, D.‐Y.;
Petit, C.;
Guan, J.;
Wang, Q.‐J.

Publication type:

Article

Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 252, doi. 10.1111/cge.12751

By:

Stojiljkovic, M.;
Klaassen, K.;
Djordjevic, M.;
Sarajlija, A.;
Brasil, S.;
Kecman, B.;
Grkovic, S.;
Kostic, J.;
Rodriguez‐Pombo, P.;
Desviat, L.R.;
Pavlovic, S.;
Perez, B.

Publication type:

Article

A role for TENM1 mutations in congenital general anosmia.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 211, doi. 10.1111/cge.12782

By:

Alkelai, A.;
Olender, T.;
Haffner‐Krausz, R.;
Tsoory, M.M.;
Boyko, V.;
Tatarskyy, P.;
Gross‐Isseroff, R.;
Milgrom, R.;
Shushan, S.;
Blau, I.;
Cohn, E.;
Beeri, R.;
Levy-Lahad, E.;
Pras, E.;
Lancet, D.

Publication type:

Article

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 230, doi. 10.1111/cge.12754

By:

Paděrová, J.;
Holubová, A.;
Simandlová, M.;
Puchmajerová, A.;
Vlčková, M.;
Malíková, M.;
Pourová, R.;
Vejvalková, S.;
Havlovicová, M.;
Šenkeříková, M.;
Ptáková, N.;
Drábová, J.;
Geryk, J.;
Maver, A.;
Křepelová, A.;
Macek, M.

Publication type:

Article

Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 276, doi. 10.1111/cge.12767

By:

Fujita, A.;
Waga, C.;
Hachiya, Y.;
Kurihara, E.;
Kumada, S.;
Takeshita, E.;
Nakagawa, E.;
Inoue, K.;
Miyatake, S.;
Tsurusaki, Y.;
Nakashima, M.;
Saitsu, H.;
Goto, Y.‐i.;
Miyake, N.;
Matsumoto, N.

Publication type:

Article

Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 288, doi. 10.1111/cge.12799

By:

Lebeko, K.;
Sloan‐Heggen, C. M.;
Noubiap, J. J. N.;
Dandara, C.;
Kolbe, D. L.;
Ephraim, S. S.;
Booth, K. T.;
Azaiez, H.;
Santos‐Cortez, R. L. P.;
Leal, S. M.;
Smith, R. J. H.;
Wonkam, A.

Publication type:

Article

Prenatal diagnosis of congenital myopathies and muscular dystrophies.

Published in:

Clinical Genetics, 2016, v. 90, n. 3, p. 199, doi. 10.1111/cge.12801

By:

Massalska, D.;
Zimowski, J.G.;
Bijok, J.;
Kucińska‐Chahwan, A.;
Łusakowska, A.;
Jakiel, G.;
Roszkowski, T.

Publication type:

Article