Familial 6p22.2 Duplication Associates With Mild Developmental Delay and Increased SSADH Activity

Linda Forsström (Siggberg); Aki Mustonen; Robert Schuit; Gajja S. Salomons; Birthe Roos; K. Michael Gibson; Cornelis Jakobs; Jaakko Ignatius; Sakari Knuutila

doi:10.1002/ajmg.b.31180

Familial 6p22.2 Duplication Associates With Mild Developmental Delay and Increased SSADH Activity

Linda Forsström (Siggberg), Aki Mustonen, Robert Schuit, Gajja S. Salomons, Birthe Roos, K. Michael Gibson, Cornelis Jakobs, Jaakko Ignatius, Sakari Knuutila

Patologian osasto

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Lehti	American journal of medical genetics. Part B, Neuropsychiatric genetics
Vuosikerta	156B
Numero	4
Sivut	448-453
Sivumäärä	6
ISSN	1552-4841
DOI - pysyväislinkit	https://doi.org/10.1002/ajmg.b.31180
Tila	Julkaistu - 2011
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

3111 Biolääketieteet

Pääsy asiakirjaan

10.1002/ajmg.b.31180

Muut tiedostot ja linkit

Link to publication in Scopus

Siteeraa tätä

Forsström (Siggberg), L., Mustonen, A., Schuit, R., Salomons, G. S., Roos, B., Gibson, K. M., Jakobs, C., Ignatius, J., & Knuutila, S. (2011). Familial 6p22.2 Duplication Associates With Mild Developmental Delay and Increased SSADH Activity. American journal of medical genetics. Part B, Neuropsychiatric genetics, 156B(4), 448-453. https://doi.org/10.1002/ajmg.b.31180

@article{6f9705acfbd34c51b3feb9c9166e9b0c,

title = "Familial 6p22.2 Duplication Associates With Mild Developmental Delay and Increased SSADH Activity",

keywords = "duplication 6p22.2, SSADH, mild mental retardation, MENTAL-RETARDATION, GENE DOSAGE, DEFICIENCY, DELETION, ACID, 6P, ABNORMALITIES, DELINEATION, ASSIGNMENT, DIAGNOSIS, 3111 Biomedicine",

author = "\{Forsstr{\"o}m (Siggberg)\}, Linda and Aki Mustonen and Robert Schuit and Salomons, \{Gajja S.\} and Birthe Roos and Gibson, \{K. Michael\} and Cornelis Jakobs and Jaakko Ignatius and Sakari Knuutila",

year = "2011",

doi = "10.1002/ajmg.b.31180",

language = "English",

volume = "156B",

pages = "448--453",

journal = "American journal of medical genetics. Part B, Neuropsychiatric genetics",

issn = "1552-4841",

publisher = "Wiley-Liss Inc.",

number = "4",

}

Forsström (Siggberg), L, Mustonen, A, Schuit, R, Salomons, GS, Roos, B, Gibson, KM, Jakobs, C, Ignatius, J & Knuutila, S 2011, 'Familial 6p22.2 Duplication Associates With Mild Developmental Delay and Increased SSADH Activity', American journal of medical genetics. Part B, Neuropsychiatric genetics, Vuosikerta 156B, Nro 4, Sivut 448-453. https://doi.org/10.1002/ajmg.b.31180

Familial 6p22.2 Duplication Associates With Mild Developmental Delay and Increased SSADH Activity. / Forsström (Siggberg), Linda; Mustonen, Aki; Schuit, Robert et al.
julkaisussa: American journal of medical genetics. Part B, Neuropsychiatric genetics, Vuosikerta 156B, Nro 4, 2011, s. 448-453.

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

TY - JOUR

T1 - Familial 6p22.2 Duplication Associates With Mild Developmental Delay and Increased SSADH Activity

AU - Forsström (Siggberg), Linda

AU - Mustonen, Aki

AU - Schuit, Robert

AU - Salomons, Gajja S.

AU - Roos, Birthe

AU - Gibson, K. Michael

AU - Jakobs, Cornelis

AU - Ignatius, Jaakko

AU - Knuutila, Sakari

PY - 2011

Y1 - 2011

KW - duplication 6p22.2

KW - SSADH

KW - mild mental retardation

KW - MENTAL-RETARDATION

KW - GENE DOSAGE

KW - DEFICIENCY

KW - DELETION

KW - ACID

KW - 6P

KW - ABNORMALITIES

KW - DELINEATION

KW - ASSIGNMENT

KW - DIAGNOSIS

KW - 3111 Biomedicine

UR - https://www.scopus.com/pages/publications/79955117717

U2 - 10.1002/ajmg.b.31180

DO - 10.1002/ajmg.b.31180

M3 - Article

SN - 1552-4841

VL - 156B

SP - 448

EP - 453

JO - American journal of medical genetics. Part B, Neuropsychiatric genetics

JF - American journal of medical genetics. Part B, Neuropsychiatric genetics

IS - 4

ER -