3 research outputs found
Phenotypic variability in a family with Townes–Brocks syndrome
- Author
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textPhenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation
- Author
- Anderson Nitsche
- Bianca Simone Zeigelboim
- CM Powell
- d V-V der Weerd MA
- DM Kurnit
- EM Botzenhart
- EM Miller
- FG Ferraz
- G Neri
- J Kohlhase
- J Kohlhase
- J Monteiro de Pina-Neto
- JF Celis
- Karyn Regina JordĂŁo Koladicz
- L Chai
- M O'Callaghan
- Mara L. Cordeiro
- Michael Rauchman
- MM Cohen Jr
- Paulo Breno Noronha Liberalesso
- PL Townes
- S Faguer
- Salmo Raskin
- Simone Carreiro Vieira Karuta
- SJ Harrison
- SM Kiefer
- SM Kiefer
- SM Kiefer
- WG Newman
- WS Surka
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
No full textAdults with genetic syndromes and cardiovascular abnormalities: clinical history and management
- Author
- Adè
- Alan F Rope
- Aligeti C
- Allan L
- Allanson JE
- Anaclerio S
- Angela E Lin
- Ardinger RH
- Avila WS
- Barbara R Pober
- Bassett AS
- Bassett AS
- Basson CT
- Basson CT
- Basson CT
- Battaglia A
- Beauchesne LM
- Bechtold SM
- Ben-Shachar S
- Benson DW
- Bird LM
- Bittles AH
- Bondy CA
- Bondy CA
- Bondy CA
- Bondy CA
- Bossler AD
- Botto LD
- Bovicelli L
- Breathnach FM
- Brickner ME
- Brickner ME
- Bui TH
- Burch M
- Burn J
- Canobbio MM
- Canobbio MM
- Carlson M
- Carotti A
- Carta C
- Carter JE
- Catherine Nowak
- Cecconi M
- Cherniske EM
- Chessa M
- Chow K
- Cohen E
- Colleen A Morris
- Cooke RA
- Cooley M
- Craig T Basson
- Csaba E
- Cullimore AJ
- Curie A
- Danetz JS
- David TE
- Deborah A McDermott
- DePaepe A
- Devriendt K
- Digilio MC
- Dittrich S
- Donaldson MDC
- Donna M McDonald-McGinn
- Doyama K
- Driscoll DA
- Elaine Zackai
- Elizabeth Goldmuntz
- Elsheikh M
- Elspeth McPherson
- Eronen M
- Feingold M
- Fernandes SM
- Foster E
- Freeman SB
- French JW
- Fryburg JS
- Gallione CJ
- Garcia-Tsao G
- Gatzoulis MA
- Geggel RL
- Gershon AS
- Giampietro P
- Giannotti A
- Giordano U
- Goldhaber SZ
- Goldmuntz E
- Goodship J
- Gott VL
- Grange CS
- Gravholt CH
- Gravholt CH
- Habashi JP
- Hamada T
- Harrison DA
- Hayashi S
- Hirsch HD
- Ho VB
- Hoess K
- Hokanson JS
- Honein MA
- Hopkins WE
- Huff DS
- Jacobs ML
- Jacqueline Noonan
- Jain T
- Johnson PT
- Jongmans M
- Joo JG
- Kaneko N
- Kaplan P
- Karnis MF
- Kawai M
- Kececioglu D
- Keren B
- Khairy P
- King CR
- Klein-Tasman BP
- Kuliev A
- Lacassie Y
- Lacro RV
- Lacro RV
- Lammer EJ
- Lavery SA
- LeMaire SA
- Lerut J
- Levy HL
- Li QY
- Lin AE
- Lin AE
- Lin AE
- Loeys BL
- Loeys BL
- Lofreddo CA
- Longacre AV
- Lopez L
- Loscalzo ML
- Loukas M
- Mahle WT
- Marino B
- Marino B
- Marino B
- Marino B
- Mary Ella Pierpont
- Matura LA
- Matura LA
- Mazzanti L
- McDermott DA
- McDonald-McGinn DM
- McDonald-McGinn DM
- McDonald-McGinn DM
- McDonald-McGinn DM
- McDonald-McGinn DM
- McElhinney DB
- McElhinney DB
- McKusick VA
- Menahem S
- Mendelson MA
- Mervis CB
- Mervis CB
- Michielon G
- Miller DC
- Mizuguchi T
- Moons P
- Moons P
- Morgan JM
- Morris CA
- Morris CA
- Morris CA
- Morse RP
- Mulik VV
- Muller LM
- Mullins DH
- Murdoch JC
- Murdoch JL
- Narumi Y
- Neptune ER
- Ng CM
- Nielsen J
- Noonan JA
- O'Sullivan T
- Okahata H
- Ostberg JE
- Ostberg JE
- Ostman-Smith I
- Pandit B
- Pannu H
- Pierpont ME
- Pilar L Magoulas
- Pober BR
- Pollack JS
- Power PD
- Press F
- Pueschel SM
- Purnell R
- Pyeritz RE
- Razzaque MA
- Reed E Pyeritz
- Reid GJ
- Reid GJ
- Reller MD
- Rizk DE
- Roberts A
- Roberts AE
- Roizen NJ
- Roman MJ
- Rossiter JP
- Ryan AK
- Sakai H
- Salim MA
- Sarkozy A
- Scambler PJ
- Schacter N
- Scheiber D
- Schrander-Strumpel CT
- Schubbert S
- Sharland M
- Shaw AC
- Shimizu A
- Shobha Rani A
- Shooner KA
- Shores J
- Silverman DI
- Sisk HE
- Siu SC
- Skorton D
- Smith DS
- Sonek J
- Soper R
- Spencer K
- Spinner NB
- Spirito P
- Stamm C
- Stochholm K
- Stromme P
- Surka WS
- Sybert VP
- Sybert VP
- Sznajer Y
- Tartaglia M
- Tartaglia M
- Thornhill AR
- Tinker A
- Tongsong T
- Tucker KJ
- van den Berg J
- van der Tuuk KV
- Van PL
- Van Rijen EH
- Varma PK
- Vaughan CJ
- Vessey M
- Viassolo V
- Wessel A
- Wessels MW
- White S
- Williams JA
- Williams MS
- Williams RG
- Wilmshurst PT
- Wilson DI
- Wilson W
- Wollack JB
- Wu JS
- Yadav BS
- Yang Q
- Zanchetta M
- Zenker M
- Zenker M
- Publication venue
- 'Ovid Technologies (Wolters Kluwer Health)'
- Publication date
- Field of study
No full text
