5 research outputs found
A rare non-Robertsonian translocation involving chromosomes 15 and 21
- Author
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- 01/01/2013
- Field of study
Full text linkIntragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay
- Author
- A Joseph D'Ercole
- AM Fredriks
- CA Bondy
- CA Bondy
- Christian P Schaaf
- Chun-An Chen
- DC Veenma
- Gayle Simpson Patel
- H Tu
- Jens Witsch
- K Inagaki
- K Raile
- KD Beck
- L Pinson
- LaDonna Immken
- LI Rudaks
- MJ Abuzzahab
- MJ Walenkamp
- MJ Walenkamp
- N Delcourt
- P Rotwein
- Patricia Hixson
- Pawel Stankiewicz
- PM Boone
- Przemyslaw Szafranski
- S Rujirabanjerd
- Sau Wai Cheung
- SR D'Mello
- WA Ester
- Y Kawashima
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textRecognizable phenotypes in CDG
- Author
- A Buczkowska
- A Erlandson
- A Lumaka
- A Teneiji Al
- AA Al-Maawali
- B Bortot
- B PĂ©rez
- BN Harding
- C Garel
- Carlos R. Ferreira
- D Marques-da-Silva
- D Marques-da-Silva
- DA Thompson
- DFGJ Wolthuis
- DM Krasnewich
- Dorinda Marques-Da-Silva
- E Morava
- E Morava
- E Tham
- E Veneselli
- Eva Morava
- F Imtiaz
- G Truin
- GM Enns
- H Antoun
- J Artigas
- J Cossins
- J Jaeken
- J Senderek
- Jaak Jaeken
- JM Brum
- JM Kamp van de
- K Dörre
- KL Stark
- L Hertz-Pannier
- L Pavone
- L Regal
- LG Riley
- LI Rudaks
- M Edwards
- M Höck
- M Schiff
- M Serrano
- M-L Monin
- MI Michelena de
- MK Thong
- N Léticée
- N Rind
- N Tayebi
- O Laplace
- P Bengtson
- P Briones
- P Lonlay de
- P Vabres
- PT Clayton
- R Barone
- R Barone
- Rita Francisco
- Ruqaia Altassan
- S Bubel
- S GrĂĽnewald
- S Işıkay
- S Kjaergaard
- S Romano
- S Vermeer
- T Endo
- T HonzĂk
- V Noelle
- W Vleugels
- W Vleugels
- X Wu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textWhat’s new in pontocerebellar hypoplasia? An update on genes and subtypes
- Author
- A Accogli
- A Gillespie
- A Hackett
- A Halevy
- A Messerschmidt
- A Poretti
- A Poretti
- A Rajab
- A Singh
- A Valbuena
- AE Fry
- AE Schaffer
- AHM Mahbubul Huq
- AM Alkhateeb
- AP Marsh
- APL Marsh
- B Durmaz
- BS Budde
- Bwee Tien Poll-The
- C Anderson
- C Gonzaga-Jauregui
- CL Waites
- CMPCD Peeters-Scholte
- D Cassandrini
- D Wichtowska
- DC Schorling
- DI Zafeiriou
- E Clement
- E Glamuzina
- E Karaca
- E Pavlidou
- E Storey
- EL Ivanova
- F Goutieres
- F Krause
- FK wing
- Frank Baas
- GH Mochida
- H Vinograd-byk
- I Marin-Valencia
- I Sánchez-Albisua
- IB Mathijssen
- IV Koning
- J Najm
- J Peiffer
- J Rankin
- J Wan
- J Wan
- JJ Volpe
- JM Graham
- JT Joseph
- K Iwama
- K Kastrissianakis
- K Siriwardena
- KC Donis
- KH Bouman
- KM Boycott
- L Burglen
- L Cantarero
- LI Rudaks
- M Brossard-Racine
- M Feinstein
- M Steinlin
- M Stoll
- M-L Monin
- MB Fasken
- MS Patel
- MY Ahmed
- N Akizu
- N Kononenko
- N Sobreira
- NZ Lax
- O Agamy
- P de Lonlay
- P Feraco
- P Goasdoué
- P Renbaum
- Peter G. Barth
- PG Barth
- PG Barth
- PG Barth
- PG Barth
- PG Barth
- R Barone
- R Brun
- R Desai
- RA Kumar
- RM Lardelli
- RM Norman
- S Albrecht
- S Edvardson
- S Grosso
- S GrĂĽnewald
- S Kadaba
- S Kamoshita
- S Koster
- S LĂĽhl
- S Palioura
- S Rudnik-Schöneborn
- S Valence
- SE Hong
- SM Chou
- SW Knight
- T Bierhals
- T Dijk van
- T van Dijk
- T van Dijk
- Tessa van Dijk
- U Moog
- V Boczonadi
- VR Eggens
- XH Jaglin
- Y Namavar
- Y Namavar
- Y Namavar
- Y Sznajer
- Z Li
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textUpdate on neuroimaging phenotypes of mid-hindbrain malformations
- Author
- A Avadhani
- A Bacciu
- A Okumura
- A Poduri
- A Poretti
- A Poretti
- A Poretti
- A Poretti
- A Poretti
- A Prats-Galino
- A Rossi
- A Tavano
- AC Mamourian
- AH Hoon Jr
- AJ Barkovich
- AJ Barkovich
- AJ Barkovich
- AJ Barkovich
- AJ Fink
- Anthony James Barkovich
- AO Khan
- B Appukuttan
- B Carletti
- B Sukhudyan
- B Thomas
- BA Shaywitz
- BĂ©atrice Nguema-Edzang
- C Duffield
- CC Quattrocchi
- CE Niesen
- Cissé Toure
- CJ Stoodley
- CJ Stoodley
- D Denis
- D Xenaki
- D Xu
- DB Vigneron
- DL Abramson
- DS Tuch
- E Bloch-Gallego
- E Courchesne
- E Förster
- E Jurkiewicz
- E Widjaja
- EC Engle
- EC Engle
- EM Valente
- F Calabrò
- F McAuliffe
- FV Dastjerdi
- G Juric-Sekhar
- G Moonis
- G Soto-Ares
- G Soto-Ares
- GE Ishak
- GH Mochida
- GS Sellick
- Gustavo Soto Ares
- H Yildiz
- HB Sarnat
- HJ Donkelaar ten
- HJ Donkelaar Ten
- HT Verzijl
- J Conklin
- J Klisch
- J Najm
- J Takanashi
- J Wang
- JB Rivière
- JD Schmahmann
- JH Lee
- JL Leach
- JP Mugler III
- JP Mugler III
- K Kulkantrakorn
- KA Aldinger
- KJ Millen
- L Burglen
- L Devisme
- L Flores-Sarnat
- L Flores-Sarnat
- L Pasquier
- L Srinivasan
- LI Rudaks
- LR Ment
- M Briguglio
- M Hodaie
- M Hoshino
- M Prastawa
- M Romani
- M Savoiardo
- M Wahl
- MA Parisi
- MA Parisi
- Mariasavina Severino
- ME Bolduc
- ME Bolduc
- ME Bolduc
- ME Moseley
- MK Ivancevic
- MS Zaki
- MT Whitehead
- MU Manto
- MV Padma
- MW Caan
- N Boddaert
- N Colombo
- N Mimura
- N Sato
- N Sato
- NK Desai
- NL Sicotte
- P Demaerel
- P Demaerel
- P Demaerel
- P Jissendi-Tchofo
- P Jissendi-Tchofo
- P Jissendi-Tchofo
- P Jissendi-Tchofo
- P Mukherjee
- Patrice Jissendi-Tchofo
- PG Barth
- PG Barth
- R Frayne
- R Kumar
- RC Bomfim
- RC Philip
- RL Buckner
- RL Friede
- RN Sener
- S Cha
- S Cha
- S Misciagna
- S Ouanounou
- S Patel
- S Patil
- S Pedraza
- S Robinson
- S Rudnik-Schöneborn
- S Sattar
- S Scholpp
- SC Goetz
- SK Lee
- SK Sgaier
- SM Maricich
- SP Toelle
- T Frodl
- T Miyata
- T Niwa
- TW Abel
- V Broccoli
- V Chizhikov
- V Sehgal
- VJ Wedeen
- VM Runge
- VV Chizhikov
- Y Namavar
- Y Namavar
- Y Paloyelis
- Y Shi
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full text
