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Ophthalmic phenotypes associated with biallelic loss‐of‐function PCDH12 variants
Ophthalmic phenotypes associated with biallelic loss‐of‐function PCDH12 variants
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Ophthalmic phenotypes associated with biallelic loss‐of‐function PCDH12 variants

Mattioli, Francesca ; Voisin, Norine ; Preikšaitienė, Eglė ; Kozlovskaja, Irina ; Kučinskas, Vaidutis ; Reymond, Alexandre

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1275-1281 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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2
New associations of serum β‐carotene, lycopene, and zeaxanthin concentrations with NR1H3, APOB, RDH12, AND CYP genes
New associations of serum β‐carotene, lycopene, and zeaxanthin concentrations with NR1H3, APOB, RDH12, AND CYP genes
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New associations of serum β‐carotene, lycopene, and zeaxanthin concentrations with NR1H3, APOB, RDH12, AND CYP genes

Domarkienė, Ingrida ; Mažeikienė, Asta ; Petrauskaitė, Guostė ; Kučinskienė, Zita Aušrelė ; Kučinskas, Vaidutis

Food science & nutrition, 2022-03, Vol.10 (3), p.763-771 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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3
Causes of preterm birth: Genetic factors in preterm birth and preterm infant phenotypes
Causes of preterm birth: Genetic factors in preterm birth and preterm infant phenotypes
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Causes of preterm birth: Genetic factors in preterm birth and preterm infant phenotypes

Dauengauer‐Kirlienė, Svetlana ; Domarkienė, Ingrida ; Pilypienė, Ingrida ; Žukauskaitė, Gabrielė ; Kučinskas, Vaidutis ; Matulevičienė, Aušra

The journal of obstetrics and gynaecology research, 2023-03, Vol.49 (3), p.781-793 [Periódico revisado por pares]

Kyoto, Japan: John Wiley & Sons Australia, Ltd

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4
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families
Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families
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Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families

Preiksaitiene, Egle ; Voisin, Norine ; Gueneau, Lucie ; Benušienė, Eglė ; Krasovskaja, Natalija ; Blažytė, Evelina Marija ; Ambrozaitytė, Laima ; Rančelis, Tautvydas ; Reymond, Alexandre ; Kučinskas, Vaidutis

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.536-542 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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5
De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome
De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome
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De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome

Pranckėnienė, Laura ; Siavrienė, Evelina ; Gueneau, Lucie ; Preikšaitienė, Eglė ; Mikštienė, Violeta ; Reymond, Alexandre ; Kučinskas, Vaidutis

Molecular genetics & genomic medicine, 2019-12, Vol.7 (12), p.e1006-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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6
Association study of taste preference: Analysis in the Lithuanian population
Association study of taste preference: Analysis in the Lithuanian population
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Association study of taste preference: Analysis in the Lithuanian population

Kavaliauskienė, Ingrida ; Domarkienė, Ingrida ; Ambrozaitytė, Laima ; Barauskienė, Lina ; Meškienė, Raimonda ; Arasimavičius, Justas ; Irnius, Algimantas ; Kučinskas, Vaidutis

Food science & nutrition, 2021-08, Vol.9 (8), p.4310-4321 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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7
A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability
A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability
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A new single gene deletion on 2q34: ERBB4 is associated with intellectual disability

Kasnauskiene, Jurate ; Ciuladaite, Zivile ; Preiksaitiene, Egle ; Utkus, Algirdas ; Peciulyte, Agnė ; Kučinskas, Vaidutis

American journal of medical genetics. Part A, 2013-06, Vol.161A (6), p.1487-1490 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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8
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome
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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

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

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1342-1348 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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9
Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate
Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate
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Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate

Nikopensius, Tiit ; Jagomägi, Triin ; Krjutškov, Kaarel ; Tammekivi, Veronika ; Saag, Mare ; Prane, Inga ; Piekuse, Linda ; Akota, Ilze ; Barkane, Biruta ; Krumina, Astrida ; Ambrozaitytė, Laima ; Matulevičienė, Aušra ; Kučinskienė, Zita Aušrelė ; Lace, Baiba ; Kučinskas, Vaidutis ; Metspalu, Andres

Birth defects research. A Clinical and molecular teratology, 2010-09, Vol.88 (9), p.748-756 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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10
Clinical and molecular characterization of a second case of 7p22.1 microduplication
Clinical and molecular characterization of a second case of 7p22.1 microduplication
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Clinical and molecular characterization of a second case of 7p22.1 microduplication

Preiksaitiene, Egle ; Kasnauskiene, Jurate ; Ciuladaite, Zivile ; Tumiene, Birute ; Patsalis, Philippos C. ; Kučinskas, Vaidutis

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1200-1203 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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