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Jansen de Vries syndrome: Report of four new patients and review of the literature
Jansen de Vries syndrome: Report of four new patients and review of the literature
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Jansen de Vries syndrome: Report of four new patients and review of the literature

Tuiskula, Anna ; Rahikkala, Elisa ; Kero, Andreina ; Haanpää, Maria K. ; Avela, Kristiina

European journal of medical genetics, 2023-08, Vol.66 (8), p.104807-104807, Article 104807 [Periódico revisado por pares]

Netherlands: Elsevier Masson SAS

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2
Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease
Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease
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Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease

Keskinen, Sini ; Paakkola, Teija ; Mattila, Mirjami ; Hietala, Marja ; Koillinen, Hannele ; Laine, Jukka ; Haanpää, Maria K.

Pediatric and developmental pathology, 2024-03, Vol.27 (2), p.181-186 [Periódico revisado por pares]

Los Angeles, CA: SAGE Publications

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3
Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome
Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome
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Detailed prenatal and postnatal MRI findings and clinical analysis of RAF1 in Noonan syndrome

Helenius, Kjell ; Parkkola, Riitta ; Arola, Anita ; Peltola, Ville ; Haanpää, Maria K.

European journal of medical genetics, 2022-11, Vol.65 (11), p.104626-104626, Article 104626 [Periódico revisado por pares]

Elsevier Masson SAS

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4
High-Resolution Bisulfite-Sequencing of Peripheral Blood DNA Methylation in Early-Onset and Familial Risk Breast Cancer Patients
High-Resolution Bisulfite-Sequencing of Peripheral Blood DNA Methylation in Early-Onset and Familial Risk Breast Cancer Patients
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High-Resolution Bisulfite-Sequencing of Peripheral Blood DNA Methylation in Early-Onset and Familial Risk Breast Cancer Patients

Chen, Justin ; Haanpää, Maria K ; Gruber, Joshua J ; Jäger, Natalie ; Ford, James M ; Snyder, Michael P

Clinical cancer research, 2019-09, Vol.25 (17), p.5301-5314 [Periódico revisado por pares]

United States

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5
Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome
Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome
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Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome

Rahikkala, Elisa ; Väisänen, Taneli ; Ojala, Liisa ; Pohjola, Pia ; Toivonen, Minna ; Parkkola, Riitta ; Haanpää, Maria K.

Molecular syndromology, 2024-03, Vol.15 (2), p.149-155 [Periódico revisado por pares]

Basel, Switzerland

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6
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
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Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Micale, Lucia ; Morlino, Silvia ; Carbone, Annalucia ; Carissimo, Annamaria ; Nardella, Grazia ; Fusco, Carmela ; Palumbo, Orazio ; Schirizzi, Annalisa ; Russo, Federica ; Mazzoccoli, Gianluigi ; Breckpot, Jeroen ; De Luca, Chiara ; Ferraris, Alessandro ; Giunta, Cecilia ; Grammatico, Paola ; Haanpää, Maria K. ; Mancano, Giorgia ; Forzano, Giulia ; Cacchiarelli, Davide ; Van Esch, Hilde ; Callewaert, Bert ; Rohrbach, Marianne ; Castori, Marco

Genetics in medicine, 2022-02, Vol.24 (2), p.439-453 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings
Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings
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Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings

Vieira, Päivi ; Nagy, Irina I. ; Rahikkala, Elisa ; Väisänen, Marja‐Leena ; Latva, Katariina ; Kaunisto, Kari ; Valmari, Pekka ; Keski‐Filppula, Riikka ; Haanpää, Maria K. ; Sidoroff, Virpi ; Miettinen, Päivi J. ; Arkkola, Tuula ; Ojaniemi, Marja ; Nuutinen, Matti ; Uusimaa, Johanna ; Myllynen, Päivi

Journal of inherited metabolic disease, 2022-03, Vol.45 (2), p.223-234 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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8
ALG11‐CDG syndrome: Expanding the phenotype
ALG11‐CDG syndrome: Expanding the phenotype
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ALG11‐CDG syndrome: Expanding the phenotype

Haanpää, Maria K. ; Ng, Bobby G. ; Gallant, Natalie M. ; Singh, Kathryn E. ; Brown, Candida ; Kimonis, Virginia ; Freeze, Hudson H. ; Muller, Eric A.

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.498-502 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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9
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants
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Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants

Kraatari-Tiri, Minna ; Haanpää, Maria K ; Willberg, Tytti ; Pohjola, Pia ; Keski-Filppula, Riikka ; Kuismin, Outi ; Moilanen, Jukka S ; Häkli, Sanna ; Rahikkala, Elisa

Journal of clinical medicine, 2022-03, Vol.11 (7), p.1837 [Periódico revisado por pares]

Switzerland: MDPI AG

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10
PHIP -associated Chung-Jansen syndrome: Report of 23 new individuals
PHIP -associated Chung-Jansen syndrome: Report of 23 new individuals
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PHIP -associated Chung-Jansen syndrome: Report of 23 new individuals

Kampmeier, Antje ; Leitão, Elsa ; Parenti, Ilaria ; Beygo, Jasmin ; Depienne, Christel ; Bramswig, Nuria C ; Hsieh, Tzung-Chien ; Afenjar, Alexandra ; Beck-Wödl, Stefanie ; Grasshoff, Ute ; Haack, Tobias B ; Bijlsma, Emilia K ; Ruivenkamp, Claudia ; Lausberg, Eva ; Elbracht, Miriam ; Haanpää, Maria K ; Koillinen, Hannele ; Heinrich, Uwe ; Rost, Imma ; Jamra, Rami Abou ; Popp, Denny ; Koch-Hogrebe, Margarete ; Rostasy, Kevin ; López-González, Vanesa ; Sanchez-Soler, María José ; Macedo, Catarina ; Schmetz, Ariane ; Steinborn, Carmen ; Weidensee, Sabine ; Lesmann, Hellen ; Marbach, Felix ; Caro, Pilar ; Schaaf, Christian P ; Krawitz, Peter ; Wieczorek, Dagmar ; Kaiser, Frank J ; Kuechler, Alma

Frontiers in cell and developmental biology, 2023-01, Vol.10, p.1020609-1020609 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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