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De novo SPAST mutations may cause a complex SPG4 phenotype.
Published in:
2019
By:
- Schieving, Jolanda H;
- Bot, Susanne T de;
- Pol, Laura A van de;
- Wolf, Nicole I;
- Brilstra, Eva H;
- Frints, Suzanna G;
- Gaalen, Judith van;
- Misra-lsrie, Mala;
- Pennings, Maartje;
- Verschuuren-Bemelmans, Corien C;
- Kamsteeg, Erik-Jan;
- Warrenburg, Bart P van de;
- Willemsen, Michèl A;
- de Bot, Susanne T;
- van de Pol, Laura A;
- van Gaalen, Judith;
- van de Warrenburg, Bart P;
- Misra-Isrie, Mala
Publication type:
Letter
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 135, doi. 10.1002/ajmg.a.63004
By:
- Maia, Nuno;
- Ibarluzea, Nekane;
- Misra‐Isrie, Mala;
- Koboldt, Daniel C.;
- Marques, Isabel;
- Soares, Gabriela;
- Santos, Rosário;
- Marcelis, Carlo L. M.;
- Keski‐Filppula, Riikka;
- Guitart, Miriam;
- Gabau Vila, Elisabeth;
- Lehman, April;
- Hickey, Scott;
- Mori, Mari;
- Terhal, Paulien;
- Valenzuela, Irene;
- Lasa‐Aranzasti, Amaia;
- Cueto‐González, Anna Maria;
- Chhouk, Brian H.;
- Yeh, Rebecca C.
Publication type:
Article
Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1576, doi. 10.1002/ajmg.a.36486
By:
- Isrie, Mala;
- Wuyts, Wim;
- Van Esch, Hilde;
- Devriendt, Koenraad
Publication type:
Article
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.
Published in:
2012
By:
- Isrie, Mala;
- Hendriks, Yvonne;
- Gielissen, Nicole;
- Sistermans, Erik A;
- Willemsen, Marjolein H;
- Peeters, Hilde;
- Vermeesch, Joris R;
- Kleefstra, Tjitske;
- Van Esch, Hilde
Publication type:
Letter
Pseudoautosomal Region 1 Length Polymorphism in the Human Population.
Published in:
PLoS Genetics, 2014, v. 10, n. 11, p. 1, doi. 10.1371/journal.pgen.1004578
By:
- Mensah, Martin A.;
- Hestand, Matthew S.;
- Larmuseau, Maarten H. D.;
- Isrie, Mala;
- Vanderheyden, Nancy;
- Declercq, Matthias;
- Souche, Erika L.;
- Van Houdt, Jeroen;
- Stoeva, Radka;
- Van Esch, Hilde;
- Devriendt, Koen;
- Voet, Thierry;
- Decorte, Ronny;
- Robinson, Peter N.;
- Vermeesch, Joris R.
Publication type:
Article
STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG.
Published in:
Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.775172
By:
- Houtman, Simon J.;
- Lammertse, Hanna C. A.;
- van Berkel, Annemiek A.;
- Balagura, Ganna;
- Gardella, Elena;
- Ramautar, Jennifer R.;
- Reale, Chiara;
- Møller, Rikke S.;
- Zara, Federico;
- Striano, Pasquale;
- Misra-Isrie, Mala;
- van Haelst, Mieke M.;
- Engelen, Marc;
- van Zuijen, Titia L.;
- Mansvelder, Huibert D.;
- Verhage, Matthijs;
- Bruining, Hilgo;
- Linkenkaer-Hansen, Klaus
Publication type:
Article

Found: 6

De novo SPAST mutations may cause a complex SPG4 phenotype.

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.

Pseudoautosomal Region 1 Length Polymorphism in the Human Population.

STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG.