Differences in Leaf Morphological Parameters of Pear (Pyrus communis L.) Based on Their Susceptibility to European Pear Rust Caused by Gymnosporangium sabinae (Dicks.) Oerst.

por Kārkliņa, Katrīna, Lācis, Gunārs, Lāce, Baiba
Publicado 2021

Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa

por Audere, Māreta, Rutka, Katrīna, Šepetiene, Svetlana, Lāce, Baiba
Publicado 2015

Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report

por Picher-Martel, Vincent, Labrie, Yvan, Rivest, Serge, Lace, Baiba, Chrestian, Nicolas
Publicado 2020

Analysis of possible genetic risk factors contributing to development of childhood acute lymphoblastic leukaemia in the Latvian population

por Kreile, Madara, Piekuse, Linda, Rots, Dmitrijs, Dobele, Zane, Kovalova, Zhanna, Lace, Baiba
Publicado 2016

Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy

por Lace, Baiba, Inashkina, Inna, Micule, Ieva, Vasiljeva, Inta, Naudina, Maruta Solvita, Strautmanis, Jurgis, Stavusis, Janis, Jankevics, Eriks
Publicado 2013

A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy

por Laflamme, Nathalie, Lace, Baiba, Thonta Setty, Samarth, Rioux, Nadie, Labrie, Yvan, Droit, Arnaud, Chrestian, Nicolas, Rivest, Serge
Publicado 2021

Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study

por Lace, Baiba, Pajusalu, Sander, Livcane, Diana, Grinfelde, Ieva, Akota, Ilze, Mauliņa, Ieva, Barkāne, Biruta, Stavusis, Janis, Inashkina, Inna
Publicado 2022

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec

por Waters, Paula J., Lace, Baiba, Buhas, Daniela, Gravel, Serge, Cyr, Denis, Boucher, Renée‐Myriam, Bernard, Geneviève, Lévesque, Sébastien, Maranda, Bruno
Publicado 2019

Impact of the m.13513G>A Variant on the Functions of the OXPHOS System and Cell Retrograde Signaling

por Kidere, Dita, Zayakin, Pawel, Livcane, Diana, Makrecka-Kuka, Marina, Stavusis, Janis, Lace, Baiba, Lin, Tsu-Kung, Liou, Chia-Wei, Inashkina, Inna
Publicado 2023

The most common European HINT1 neuropathy variant phenotype and its case studies

por Rozevska, Marija, Rots, Dmitrijs, Gailite, Linda, Linde, Ronalds, Mironovs, Stanislavs, Timcenko, Maksims, Linovs, Viktors, Locmele, Dzintra, Micule, Ieva, Lace, Baiba, Kenina, Viktorija
Publicado 2023

A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy

por Pal, Maitou, Lace, Baiba, Labrie, Yvan, Laflamme, Nathalie, Rioux, Nadie, Setty, Samarth Thonta, Dugas, Marc‐Andre, Gosselin, Louise, Droit, Arnaud, Chrestian, Nicolas, Rivest, Serge
Publicado 2021

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

por Puisac, Beatriz, Marcos-Alcalde, Iñigo, Hernández-Marcos, María, Tobajas Morlana, Pilar, Levtova, Alina, Schwahn, Bernd C., DeLaet, Corinne, Lace, Baiba, Gómez-Puertas, Paulino, Pié, Juan
Publicado 2018

Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies

por Inashkina, Inna, Jankevics, Eriks, Stavusis, Janis, Vasiljeva, Inta, Viksne, Kristine, Micule, Ieva, Strautmanis, Jurgis, Naudina, Maruta S., Cimbalistiene, Loreta, Kucinskas, Vaidutis, Krumina, Astrida, Utkus, Algirdas, Burnyte, Birute, Matuleviciene, Ausra, Lace, Baiba
Publicado 2016

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus

por Cipriani, Valentina, Silva, Raquel S., Arno, Gavin, Pontikos, Nikolas, Kalhoro, Ambreen, Valeina, Sandra, Inashkina, Inna, Audere, Mareta, Rutka, Katrina, Puech, Bernard, Michaelides, Michel, van Heyningen, Veronica, Lace, Baiba, Webster, Andrew R., Moore, Anthony T.
Publicado 2017

Case Report: Two Families With HPDL Related Neurodegeneration

por Micule, Ieva, Lace, Baiba, Wright, Nathan T., Chrestian, Nicolas, Strautmanis, Jurgis, Diriks, Mikus, Stavusis, Janis, Kidere, Dita, Kleina, Elfa, Zdanovica, Anna, Laflamme, Nataly, Rioux, Nadie, Setty, Samarth Thonta, Pajusalu, Sander, Droit, Arnaud, Lek, Monkol, Rivest, Serge, Inashkina, Inna
Publicado 2022

Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia

por Lace, Baiba, Micule, Ieva, Kenina, Viktorija, Setlere, Signe, Strautmanis, Jurgis, Kazaine, Inese, Taurina, Gita, Murmane, Daiga, Grinfelde, Ieva, Kornejeva, Liene, Krumina, Zita, Sterna, Olga, Radovica-Spalvina, Ilze, Vasiljeva, Inta, Gailite, Linda, Stavusis, Janis, Livcane, Diana, Kidere, Dita, Malniece, Ieva, Inashkina, Inna
Publicado 2022

Interaction between IRF6 and TGFA Genes Contribute to the Risk of Nonsyndromic Cleft Lip/Palate

por Letra, Ariadne, Fakhouri, Walid, Fonseca, Renata F., Menezes, Renato, Kempa, Inga, Prasad, Joanne L., McHenry, Toby G., Lidral, Andrew C., Moreno, Lina, Murray, Jeffrey C., Daack-Hirsch, Sandra, Marazita, Mary L., Castilla, Eduardo E., Lace, Baiba, Orioli, Ieda M., Granjeiro, Jose M., Schutte, Brian C., Vieira, Alexandre R.
Publicado 2012

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

por Kuipers, Demy J. S., Mandemakers, Wim, Lu, Chin‐Song, Olgiati, Simone, Breedveld, Guido J., Fevga, Christina, Tadic, Vera, Carecchio, Miryam, Osterman, Bradley, Sagi‐Dain, Lena, Wu‐Chou, Yah‐Huei, Chen, Chiung C., Chang, Hsiu‐Chen, Wu, Shey‐Lin, Yeh, Tu‐Hsueh, Weng, Yi‐Hsin, Elia, Antonio E., Panteghini, Celeste, Marotta, Nicolas, Pauly, Martje G., Kühn, Andrea A., Volkmann, Jens, Lace, Baiba, Meijer, Inge A., Kandaswamy, Krishna, Quadri, Marialuisa, Garavaglia, Barbara, Lohmann, Katja, Bauer, Peter, Mencacci, Niccolò E., Lubbe, Steven J., Klein, Christine, Bertoli‐Avella, Aida M., Bonifati, Vincenzo
Publicado 2020

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

por Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth
Publicado 2020