Identification of a novel BICRA variant leading to the newly described Coffin–Siris syndrome 12 von Asadauskaitė, Greta, Morkūnienė, Aušra, Utkus, Algirdas, Burnytė, Birutė

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A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects von Kalinauskiene, Ruta, Brazdziunaite, Deimante, Burokiene, Neringa, Dirsė, Vaidas, Morkuniene, Ausra, Utkus, Algirdas, Preiksaitiene, Egle

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HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling von Malcorps, Matilde, Amor-Barris, Silvia, Burnyte, Birute, Vilimiene, Ramune, Armirola-Ricaurte, Camila, Grigalioniene, Kristina, Ekshteyn, Alexandra, Morkuniene, Ausra, Vaitkevicius, Arunas, De Vriendt, Els, Baets, Jonathan, Scherer, Steven S, Ambrozaityte, Laima, Utkus, Algirdas, Jordanova, Albena, Peeters, Kristien

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Juvenile Huntington's disease: two case reports and a review of the literature von Lesinskienė, Sigita, Rojaka, Darja, Praninskienė, Rūta, Morkūnienė, Aušra, Matulevičienė, Aušra, Utkus, Algirdas

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A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect von Aleksiūnienė, Beata, Preiksaitiene, Egle, Morkūnienė, Aušra, Ambrozaitytė, Laima, Utkus, Algirdas

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A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report von Siavrienė, Evelina, Petraitytė, Gunda, Mikštienė, Violeta, Rančelis, Tautvydas, Maldžienė, Živilė, Morkūnienė, Aušra, Byčkova, Jekaterina, Utkus, Algirdas, Kučinskas, Vaidutis, Preikšaitienė, Eglė

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Compound heterozygous c.598_612del and c.1746-20C G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report von Siavriene, Evelina, Petraityte, Gunda, Burnyte, Birute, Morkuniene, Ausra, Mikstiene, Violeta, Rancelis, Tautvydas, Utkus, Algirdas, Kucinskas, Vaidutis, Preiksaitiene, Egle

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A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome von Preiksaitiene, Egle, Caro, Alfonso, Benušienė, Eglė, Oltra, Silvestre, Orellana, Carmen, Morkūnienė, Aušra, Roselló, Mónica Pilar, Kasnauskiene, Jurate, Monfort, Sandra, Kučinskas, Vaidutis, Mayo, Sonia, Martinez, Francisco

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Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania von Morkūniené, Ausra, Steponaviciūt, Danguole, Utkus, Algirdas, Kucinskas, Vaidutis

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Significant Association Between Huntingtin Gene Mutation and Prevalence of Hopelessness, Depression and Anxiety Symptoms von Butėnaitė, Adelė, Strumila, Robertas, Lengvenytė, Aistė, Pakutkaitė, Indrė Kotryna, Morkūnienė, Aušra, Matulevičienė, Aušra, Dlugauskas, Edgaras, Utkus, Algirdas

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A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects von Kalinauskiene, Ruta, Brazdziunaite, Deimante, Burokiene, Neringa, Dirsė, Vaidas, Morkuniene, Ausra, Utkus, Algirdas, Preiksaitiene, Egle

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Rapidly Progressing and Early-Onset Forms of Amyotrophic Lateral Sclerosis Caused by a Novel SOD1 Variant in a Lithuanian Family von Valančius, Domantas, Burnytė, Birutė, Masaitienė, Raminta, Morkūnienė, Aušra, Klimašauskienė, Aušra

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Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies von Preikšaitienė, Eglė, Ambrozaitytė, Laima, Maldžienė, Živilė, Morkūnienė, Aušra, Cimbalistienė, Loreta, Rančelis, Tautvydas, Utkus, Algirdas, Kučinskas, Vaidutis

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Identification of a novel BICRA variant leading to the newly described Coffin-Siris syndrome 12 von Asadauskaitė, Greta, Morkūnienė, Aušra, Utkus, Algirdas, Burnytė, Birutė

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Ca2+ stimulates both the respiratory and phosphorylation subsystems in rat heart mitochondria von Mildaziene, V, Baniene, R, Nauciene, Z, Marcinkeviciute, A, Morkuniene, R, Borutaite, V, Kholodenko, B, Brown, G C

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