Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome? | Journal of Medical Genetics

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Short report

Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?

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	Abstract	Full	Pdf
Oct 1999	0	4	0
Nov 1999	0	1	0
Dec 1999	0	4	3
Jan 2000	0	1	2
Feb 2000	2	1	2
Mar 2000	1	4	2
Apr 2000	0	2	0
May 2000	1	4	1
Jun 2000	0	1	0
Aug 2000	1	0	1
Sep 2000	1	4	2
Dec 2000	0	1	0
Feb 2001	1	1	0
Mar 2001	1	3	1
Apr 2001	3	6	0
May 2001	0	5	0
Jun 2001	0	2	1
Jul 2001	1	0	0
Aug 2001	0	4	1
Sep 2001	4	1	0
Oct 2001	2	15	2
Nov 2001	1	1	0
Jan 2002	0	3	0
Feb 2002	0	3	1
Mar 2002	1	0	1
Apr 2002	0	2	0
May 2002	0	2	1
Jun 2002	0	2	2
Jul 2002	0	1	0
Aug 2002	1	0	0
Sep 2002	0	5	1
Oct 2002	1	2	0
Nov 2002	0	2	0
Feb 2003	0	3	0
Mar 2003	0	2	0
Apr 2003	0	5	1
May 2003	1	8	2
Jun 2003	1	3	2
Jul 2003	10	12	2
Aug 2003	7	12	0
Sep 2003	10	5	0
Oct 2003	10	9	1
Nov 2003	15	12	6
Dec 2003	17	10	0
Jan 2004	15	13	2
Feb 2004	11	11	5
Mar 2004	15	10	1
Apr 2004	17	8	2
May 2004	41	41	3
Jun 2004	42	47	2
Jul 2004	42	53	6
Aug 2004	44	55	6
Sep 2004	28	75	9
Oct 2004	20	103	13
Nov 2004	13	115	12
Dec 2004	17	59	2
Jan 2005	9	43	1
Feb 2005	9	43	4
Mar 2005	13	112	2
Apr 2005	1	36	6
May 2005	1	68	4
Jun 2005	9	31	6
Jul 2005	6	35	7
Aug 2005	7	19	8
Sep 2005	5	24	4
Oct 2005	7	33	3
Nov 2005	3	37	3
Dec 2005	7	44	3
Jan 2006	3	60	8
Feb 2006	4	36	7
Mar 2006	4	44	8
Apr 2006	2	33	3
May 2006	5	32	4
Jun 2006	8	25	2
Jul 2006	6	23	4
Aug 2006	9	38	3
Sep 2006	8	55	19
Oct 2006	11	87	23
Nov 2006	6	88	25
Dec 2006	12	69	21
Jan 2007	5	91	17
Feb 2007	3	81	18
Mar 2007	11	87	29
Apr 2007	57	9	1
May 2007	58	11	2
Jun 2007	44	7	4
Jul 2007	26	22	10
Aug 2007	38	7	2
Sep 2007	20	8	2
Oct 2007	36	3	4
Nov 2007	23	6	1
Dec 2007	24	3	3
Jan 2008	28	6	1
Feb 2008	28	6	2
Mar 2008	33	6	5
Apr 2008	47	6	5
May 2008	19	8	2
Jun 2008	35	4	1
Jul 2008	43	10	2
Aug 2008	46	11	6
Sep 2008	43	6	3
Oct 2008	24	2	1
Nov 2008	31	7	2
Dec 2008	17	6	0
Jan 2009	36	11	1
Feb 2009	36	8	0
Mar 2009	39	8	2
Apr 2009	40	1	2
May 2009	35	8	3
Jun 2009	27	6	0
Jul 2009	20	6	2
Aug 2009	21	4	1
Sep 2009	28	5	0
Oct 2009	22	6	0
Nov 2009	25	6	1
Dec 2009	24	5	0
Jan 2010	24	1	2
Feb 2010	22	3	2
Mar 2010	25	5	0
Apr 2010	24	4	1
May 2010	23	6	3
Jun 2010	26	5	3
Jul 2010	20	3	1
Aug 2010	204	18	2
Sep 2010	188	41	1
Oct 2010	304	28	1
Nov 2010	200	22	0
Dec 2010	135	24	0
Jan 2011	231	16	0
Feb 2011	239	21	0
Mar 2011	245	26	0
Apr 2011	271	18	1
May 2011	275	16	0
Jun 2011	402	33	1
Jul 2011	400	22	0
Aug 2011	430	26	3
Sep 2011	479	36	2
Oct 2011	346	26	1
Nov 2011	139	163	1
Dec 2011	16	488	8
Jan 2012	23	422	12
Feb 2012	11	315	6
Mar 2012	10	443	6
Apr 2012	14	218	5
May 2012	20	406	3
Jun 2012	18	424	15
Jul 2012	15	391	12
Aug 2012	12	558	10
Sep 2012	14	602	9
Oct 2012	28	704	18
Nov 2012	16	338	6
Dec 2012	28	67	5
Jan 2013	20	81	5
Feb 2013	18	69	8
Mar 2013	21	97	3
Apr 2013	12	93	8
May 2013	28	93	7
Jun 2013	10	61	5
Jul 2013	25	49	6
Aug 2013	6	68	1
Sep 2013	5	69	6
Oct 2013	6	51	1
Nov 2013	10	33	1
Dec 2013	5	41	1
Jan 2014	7	50	0
Feb 2014	5	35	1
Mar 2014	9	38	7
Apr 2014	11	32	3
May 2014	11	55	2
Jun 2014	14	52	1
Jul 2014	7	53	4
Aug 2014	7	77	3
Sep 2014	9	69	2
Oct 2014	2	38	1
Nov 2014	10	20	1
Dec 2014	5	23	2
Jan 2015	4	31	0
Feb 2015	3	19	2
Mar 2015	3	43	3
Apr 2015	3	26	2
May 2015	7	42	2
Jun 2015	0	45	1
Jul 2015	2	25	2
Aug 2015	1	30	2
Sep 2015	15	36	1
Oct 2015	1	30	1
Nov 2015	9	21	2
Dec 2015	8	33	4
Jan 2016	7	34	3
Feb 2016	4	29	2
Mar 2016	9	17	11
Apr 2016	5	25	3
May 2016	2	10	4
Jun 2016	0	21	3
Jul 2016	2	23	5
Aug 2016	3	21	2
Sep 2016	3	14	1
Oct 2016	3	14	1
Nov 2016	5	24	0
Dec 2016	0	14	1
Jan 2017	3	19	3
Feb 2017	2	17	1
Mar 2017	0	17	0
Apr 2017	0	13	2
May 2017	1	18	0
Jun 2017	9	19	4
Jul 2017	13	13	3
Aug 2017	18	16	2
Sep 2017	35	33	7
Oct 2017	20	18	3
Nov 2017	19	19	2
Dec 2017	28	24	1
Jan 2018	115	113	1
Feb 2018	68	60	1
Mar 2018	134	129	6
Apr 2018	36	34	2
May 2018	37	35	3
Jun 2018	76	64	2
Jul 2018	47	45	1
Aug 2018	74	68	6
Sep 2018	63	63	3
Oct 2018	69	67	5
Nov 2018	84	80	11
Dec 2018	65	65	5
Jan 2019	74	70	13
Feb 2019	69	68	5
Mar 2019	38	35	10
Apr 2019	32	32	14
May 2019	28	28	3
Jun 2019	41	39	5
Jul 2019	54	54	5
Aug 2019	30	30	2
Sep 2019	38	38	3
Oct 2019	54	54	4
Nov 2019	33	33	1
Dec 2019	34	32	8
Jan 2020	29	29	5
Feb 2020	35	32	6
Mar 2020	13	13	1
Apr 2020	19	16	2
May 2020	33	33	5
Jun 2020	12	12	2
Jul 2020	11	11	0
Aug 2020	15	15	5
Sep 2020	29	29	4
Oct 2020	50	48	6
Nov 2020	24	23	8
Dec 2020	39	38	2
Jan 2021	31	29	8
Feb 2021	22	20	3
Mar 2021	26	25	2
Apr 2021	26	26	6
May 2021	14	14	2
Jun 2021	18	18	0
Jul 2021	24	24	4
Aug 2021	35	35	4
Sep 2021	22	21	2
Oct 2021	28	26	1
Nov 2021	33	31	6
Dec 2021	33	33	2
Jan 2022	25	26	5
Feb 2022	20	19	4
Mar 2022	24	24	9
Apr 2022	35	36	8
May 2022	45	41	1
Jun 2022	26	26	0
Jul 2022	21	20	0
Aug 2022	42	42	2
Sep 2022	47	46	1
Oct 2022	33	33	4
Nov 2022	31	31	2
Dec 2022	10	9	1
Jan 2023	16	16	0
Feb 2023	41	43	2
Total	9462	12848	963